{"id":76,"date":"2019-11-08T18:58:21","date_gmt":"2019-11-08T23:58:21","guid":{"rendered":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/?post_type=chapter&#038;p=76"},"modified":"2022-06-15T13:58:50","modified_gmt":"2022-06-15T17:58:50","slug":"non-mendelian-genes-and-gene-interactions","status":"publish","type":"chapter","link":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/chapter\/non-mendelian-genes-and-gene-interactions\/","title":{"raw":"Non-Mendelian Inheritance","rendered":"Non-Mendelian Inheritance"},"content":{"raw":"<h1>Non-Mendelian Inheritance<\/h1>\r\nSo far in this course, we have seen that we can predict how traits are passed from parents to offspring using Mendel's Laws of Inheritance (Self test: See if you can define all three, then refresh your memory with the glossary below) Unfortunately, in nature things are seldom so simple, and there are many cases where patterns of inheritance do not follow Mendel's laws.\u00a0In this chapter, we will take a look at several examples of non-Mendelian inheritance.\r\n<div class=\"textbox textbox--key-takeaways\"><header class=\"textbox__header\">\r\n<p class=\"textbox__title\"><strong>Mendel's Laws of Inheritance<\/strong><\/p>\r\n\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\n[h5p id=\"18\"]\r\n\r\n<hr \/>\r\n\r\n<\/div>\r\n<\/div>\r\n<h3>Non-Mendelian Dominance<\/h3>\r\nIn Mendel's peas, every trait Mendel described exhibited\u00a0<strong>complete dominance<\/strong>, meaning one allele would always mask the expression of the other.\u00a0Since Mendel's time, other types of Dominant\/Recessive relationships have been described, including\u00a0<strong>Co-Dominance <\/strong>and\u00a0<strong>Incomplete Dominance<\/strong>.\r\n<h4>Incomplete Dominance<\/h4>\r\nTo fully understand non-Mendelian modes of dominance, we need to first understand <em>why <\/em>alleles give rise to their associated traits. For example, we know that in Mendel's peas, flower colour is controlled by a single gene with two alleles. One allele (Dominant) produces purple flowers, while the other (Recessive) produces white flowers. Why is this?\r\n\r\nIt turns out that this gene codes for a protein that is needed to produce [pb_glossary id=\"117\"]anthocyanin pigment[\/pb_glossary]. The recessive allele codes for a non-functioning protein, and thus homozygous-recessive peas produce flowers with no anthocyanin pigment at all, giving them their white colour. If a plant has even one functioning copy of the allele, it can produce enough anthocyanin to completely dye its flowers purple, which is why heterozygous pea plants are still purple. This mechanism was described fairly recently, in 2010 (150 years after Mendel first described the phenotype!) If you want to learn more about the specifics of how this gene works, check out this article from New Zealand's <a href=\"https:\/\/www.sciencelearn.org.nz\/resources\/2001-identifying-mendel-s-pea-genes\">Science Learning Hub<\/a>.\r\n\r\nIn this case, one functioning allele produces enough pigment to produce the purple phenotype. What if this wasn't the case? What if a homozygous plant with two copies of the purple allele produced twice as much pigment as a heterozygous plant with only one copy? We will consider this scenario in the following exercise:\r\n\r\n[h5p id=\"24\"]\r\n\r\nThis scenario, where the phenotype that arises from a given set of alleles is\u00a0<em>dose-dependent<\/em>, is an example of <strong>i<\/strong><strong>ncomplete dominance<\/strong>, where the recessive allele is not completely masked by the dominant allele. This typically leads to a third phenotype in heterozygotes, which looks like a muted version of the homozygous-dominant phenotype.\r\n<h4><span style=\"font-family: Roboto, Helvetica, Arial, sans-serif;font-size: 1em\">Co-dominance<\/span><\/h4>\r\nCo-dominance occurs when two alleles of the same gene are fully expressed at the same time in a heterozygous organism. This leads to a <em>heterogeneous<\/em> phenotype, where both parental phenotypes are expressed simultaneously and equally. This is distinct from incomplete dominance, where the phenotype of one allele only partially masks the phenotype of the other.\r\n\r\n<em><strong>Hypothetical Case Study: Thorny Roses<\/strong><\/em>\r\n\r\nLet's imagine you are a geneticist in charge of breeding roses. The variety of rose you work with has two types of thorns, long (T<sup>L<\/sup>) and short (T<sup>S<\/sup>):\r\n\r\n<img class=\"alignnone wp-image-156 size-medium\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-280x300.png\" alt=\"Two roses, one with the short-thorn phenotype, one with the long-thorn phenotype.\" width=\"280\" height=\"300\" \/>\r\n\r\nLuckily, you are able to acquire pure-breeding lines for each phenotype. You cross these lines to produce F1 offspring, all of which have the following phenotype:\r\n\r\n<img class=\"alignnone wp-image-157 size-medium\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1-253x300.png\" alt=\"F1 rose, the product of a test-cross between pure-breeding parents with short-thorn and long-thorn phenotypes. Half of the thorns on the F1 rose are long, half are short. \" width=\"253\" height=\"300\" \/>\r\n\r\nNote that these F1 offspring both have short and long thorns in equal proportion. You then cross two F1 offspring and note the following phenotype ratios in the F2 offspring:\r\n\r\n<img class=\"alignnone wp-image-163\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2022\/06\/fixed-rose-image-214x300.png\" alt=\"Monohybrid cross between two roses\" width=\"327\" height=\"459\" \/>\r\n\r\nThese offspring ratios tell you a few things about the thorn-size phenotype. Test your understanding using the following exercise:\r\n\r\n[h5p id=\"27\"]\r\n\r\nContrast this scenario with the non-Mendelian pea flowers we discussed above. Heterozygote pea flowers express an intermediate phenotype that resembles a blend of the parental phenotypes. In this scenario, heterozygote roses express both parental phenotypes <em>simultaneously and equally<\/em>. Thus, we can say that the alleles for thorn-size are\u00a0<strong>co-dominant<em>\u00a0<\/em><\/strong>to each other.\r\n<h4>Allelic Series<\/h4>\r\nIn all the scenarios we have considered so far, genes always have two alleles. In nature, it is common for genes to have more than two alleles, each with their own associated phenotype. In these cases, we say the gene exhibits <strong>multiple allelism<\/strong>.\r\n<div class=\"textbox textbox--exercises\"><header class=\"textbox__header\">\r\n<div class=\"textbox shaded\">\r\n<div class=\"textbox textbox--exercises\"><header class=\"textbox__header\">\r\n<div class=\"textbox shaded\"><header class=\"textbox__header\">\r\n<p class=\"textbox__title\"><em><strong>Hypothetical Case Study: Blue-spot Butterflies<\/strong><\/em><\/p>\r\n\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\nImagine you are a geneticist studying the rare blue-spot butterfly (sadly not a real insect). This butterfly has three distinct wing phenotypes: Small, medium, and large.\r\n\r\n<\/div>\r\n<\/div>\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\n<img class=\"size-large wp-image-133\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly2-1024x320.png\" alt=\"The three wing-size phenotypes of the blue-spot butterfly.\" width=\"1024\" height=\"320\" \/>\r\n\r\n<\/div>\r\n<p style=\"padding-left: 30px\">Through previous testing, you know that this phenotype is controlled at a single locus. At first glance, this looks like it could be a classic case of incomplete dominance, where heterozygous individuals produce a \"blended\" phenotype. However, while rearing the butterflies in the lab, you realize you can establish\u00a0<em>pure-breeding\u00a0<\/em><em>lines\u00a0<\/em>of each phenotype! What does this tell you about the system?<\/p>\r\n\r\n<\/div>\r\n[h5p id=\"26\"]\r\n<div class=\"textbox textbox--exercises\">\r\n<p style=\"padding-left: 30px\">Now that you have this new-found knowledge about the wing-size phenotype, you run the following test-crosses on pure-breeding lines of each phenotype:<\/p>\r\n\r\n<div class=\"textbox__content\">\r\n\r\n<img class=\"size-large wp-image-134\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly5-1024x749.png\" alt=\"Test crosses to determine allele interactions. Crossing small-winged butterflies with medium-winged butterflies produces medium-winged offspring. Crossing small-winged and large-winged butterflies produces large-winged offspring. Crossing small-winged and large-winged butterflies produces large-winged offspring. \" width=\"1024\" height=\"749\" \/>\r\n\r\n&nbsp;\r\n\r\nNow this is an odd pattern! Let's try to analyse it one piece of information at a time:\r\n<ol>\r\n \t<li>The first test cross tells us that W<sup>M<\/sup> is dominant over W<sup>S<\/sup><\/li>\r\n \t<li>The second test cross tells us that W<sup>L<\/sup> is dominant over W<sup>S<\/sup><\/li>\r\n \t<li>The third test cross tells us that W<sup>L<\/sup> is also dominant over W<sup>M<\/sup><\/li>\r\n<\/ol>\r\nIt appears that there is a<em> hierarchy of dominance<\/em> between the three alleles, structured as W<sup>L<\/sup> &gt; W<sup>M<\/sup> &gt; W<sup>S<\/sup>.\u00a0What you've described here is an <strong>a<\/strong><strong>llelic series<\/strong>, a special case of multiple allelism where there is a set hierarchy for all the alleles involved.\r\n\r\n<\/div>\r\n<\/div>\r\n<\/div>\r\n<\/header><\/div>\r\n<div class=\"textbox textbox--key-takeaways\"><header class=\"textbox__header\">\r\n<h4 class=\"textbox__title\"><strong>Summary<\/strong>: Non-Mendelian Dominance<\/h4>\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\nHere are brief definitions of the three modes of non-Mendelian dominance discussed above\r\n<ul>\r\n \t<li><strong>Incomplete dominance<\/strong> occurs when one copy of a dominant allele isn't enough to completely mask the recessive phenotype.<\/li>\r\n \t<li><strong>Co-dominance<\/strong> occurs when both alleles of a gene are expressed equally in a heterozygote.<\/li>\r\n \t<li><strong>Allelic series<\/strong> occurs when there are more than two alleles for a given gene, and those alleles follow a set hierarchy of dominance.<\/li>\r\n<\/ul>\r\nThese cases can sometimes be difficult to tell apart, particularly incomplete dominance and co-dominance. Remember that all phenotypes have a molecular basis: genes code for proteins, and it is the action of these proteins that lead to visible phenotypes. Often, we need to investigate both the genetic basis and the <em>molecular basis<\/em> for a phenotype before we can fully understand why certain patterns of inheritance arise.\r\n\r\n<\/div>\r\n<\/div>\r\n\r\n<hr \/>\r\n\r\n<h3>Lethal Alleles<\/h3>\r\nSome genes carry out functions that are absolutely essential to the survival of an organism. For example, genes that control the development of heart muscles, or self-recognition by the immune system. These are broadly termed <strong>Essential Genes<\/strong>, because loss of function in these genes would be lethal under normal circumstances. Change-of-function mutations in these genes are, naturally, referred to as\u00a0<strong>Lethal Mutations<\/strong>, and alleles that carry lethal mutations are termed\u00a0<strong>Lethal Alleles<\/strong>. It may seem counter-intuitive that lethal alleles could persist within a population, but they do appear from time to time, and they tend to come with their own set of non-Mendelian quirks.\r\n<h4><span style=\"font-family: Roboto, Helvetica, Arial, sans-serif;font-size: 1em\">Dominant Lethal Alleles<\/span><\/h4>\r\nDominant lethal alleles display complete dominance over the wild-type, making them difficult to\u00a0study - even one copy leads to death. In most cases, these alleles aren't passed from parent to offspring, but instead arise spontaneously from mutations. One exception to this is Huntington's Disease:\r\n<div class=\"textbox textbox--exercises\"><header class=\"textbox__header\">\r\n<p class=\"textbox__title\"><em><strong>Case Study<\/strong>: <strong>Huntington's Disease<\/strong><\/em><\/p>\r\n\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\nA common example of a dominant lethal allele in humans is Huntington's Disease (HD). HD is a late-onset neuro-degenerative disease; the life expectancy for people with HD is typically 40-50 years. HD is caused by mutations in the gene\u00a0<em>Huntingtin (htt)<\/em>, and even one copy of the mutant allele is enough to cause full progression of the disease.\r\n\r\nThe late-onset of this disease is important: it allows a mutant copy of\u00a0<em>Huntingtin<\/em> to be passed to offspring before the disease shows any sign of progression. Keep this example in mind; we'll be coming back to it later in the module.\r\n\r\n<\/div>\r\n<\/div>\r\n<h4>Recessive Lethal Alleles<\/h4>\r\n<div class=\"textbox textbox--exercises\"><header class=\"textbox__header\">\r\n<p class=\"textbox__title\"><em><strong>Case Study:\u00a0Cu\u00e9not's yellow mice<\/strong><\/em><\/p>\r\n\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\nYou are working with a population of lab-reared mice. These mice can either have yellow or black fur, and you want to figure out how the gene for fur colour is inherited. While performing test crosses between yellow mice, you notice the following pattern emerge repeatedly in their offspring:\r\n<div class=\"textbox textbox--learning-objectives\">\r\n<div class=\"textbox__content\">\r\n<p style=\"text-align: center\">2 yellow : 1 black<\/p>\r\n\r\n<\/div>\r\n<\/div>\r\nYou might deduce that the yellow phenotype is dominant over black, but where is this odd ratio coming from? Shouldn't you be seeing 3:1 yellow to black mice? By performing more test crosses, you realize that it is impossible to establish pure-breeding lines of yellow mice, meaning\u00a0<em>it is impossible for mice to be homozygous for the fur colour gene.\u00a0<\/em>\r\n\r\nThis is the exact scenario encountered by the French geneticist Lucien\u00a0Cu\u00e9not, who described this relationship in 1905. At the time, he didn't know what caused this odd phenomenon, and it wasn't until a few years later that his colleagues were able to tease it apart. It turns out that the gene for coat colour also controls a process that is essential to the development of mice embryos. The yellow allele of this gene carries a recessive mutation that alters mouse development, and kills the embryo. Thus, homozygous-yellow mice die\u00a0<em>in utero<\/em> and can never be observed in test crosses!\r\n\r\n<span style=\"font-size: 1rem\">For a more comprehensive look at this story, and references to the original papers, see <a href=\"https:\/\/www.nature.com\/scitable\/topicpage\/mendelian-ratios-and-lethal-genes-557\/\">this article<\/a> from\u00a0<em>Nature<\/em>.\u00a0<\/span>\r\n\r\n<\/div>\r\n<\/div>\r\nIn modern genetics terms, we would say that the allele for yellow fur is <strong>pleiotropic<\/strong>, meaning it codes for multiple phenotypes. In this case, the primary phenotype (coat colour) is dominant, while the secondary phenotype (death) is recessive.\r\n\r\nThis case is particularly interesting: The pleiotropy of the yellow allele is actually very important for the discovery of the recessive lethal phenotype; if the lethal allele wasn't attached to a visible phenotype, we might never had noticed anything was wrong, aside from maybe reduced fecundity in our monohybrid crosses. In fact, most recessive lethal alleles aren't connected to a dominant phenotype, and are completely invisible.\u00a0Thus, heterozygotes can unknowingly distribute them throughout a population with no indication that they ever carry a mutation.\r\n<h4>Conditional Lethality<\/h4>\r\nThis last case is a bit odd, and can be difficult to identify.\u00a0<strong>Conditional Lethality\u00a0<\/strong>occurs when a given allele produces a lethal phenotype, but that phenotype is only expressed under certain environmental conditions.\r\n<div class=\"textbox textbox--exercises\"><header class=\"textbox__header\">\r\n<p class=\"textbox__title\"><em><strong>Case Study:\u00a0Favism<\/strong><\/em><\/p>\r\n\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\nFavism is a hereditary condition that affects certain people of Middle Eastern and Mediterranean descent. The condition is caused by a deficiency in the enzyme glucose-6-phosphate dehydrogenase, which is needed to breakdown sugars. This condition is dominant, X-linked, and is completely invisible most of the time.\r\n\r\nIf an individual with the condition eats certain foods (fava beans, specifically) or takes certain medications, they experience a massive breakdown of red blood cells. The effects of this range from mild (anemia) to severe (blood clots, liver failure), and in extreme cases can be lethal. On the other hand, this condition is also protective against malaria, which is why it has persisted in affected populations despite it's disastrous side effects.\r\n\r\n<\/div>\r\n<\/div>\r\n[h5p id=\"25\"]\r\n\r\n<hr \/>\r\n\r\n<h3>Conditional Expression of Alleles<\/h3>\r\nAs we just saw in the case of conditional lethality, phenotypes can sometimes be affected by <em>environmental factors<\/em>, independent of the genotype. This is actually very common in nature, and is broadly termed\u00a0<strong>Conditional Expression of Alleles<\/strong><em>.\u00a0<\/em>Many organs and tissues rely on conditional expression of alleles for normal function; for example, cells in your stomach lining should only produces acid when there is food present that needs digesting. Otherwise, there is a risk of the acid burning through the mucous that protects your stomach lining.\r\n<div class=\"textbox textbox--exercises\"><header class=\"textbox__header\"><\/header>\r\n<div class=\"textbox__content\"><\/div>\r\n<\/div>\r\n\r\n<hr \/>\r\n\r\n<h3>Variable Expressivity and Penetrance<\/h3>\r\nIn all the cases we have seen so far - in both Mendelian and non-Mendelian modes of inheritance - individuals with a given genotype will always express the same phenotype. This, unfortunately, is not always the case.\r\n<h4>Variable Expessivity<\/h4>\r\n<strong>Expressivity<\/strong>\u00a0tells us the <em>degree to which a phenotype will be expressed<\/em> for an individual with a particular genotype. In all the examples we have seen so far, all alleles have had 100% expressivity, meaning a specific genotype will produce a specific phenotype 100% of the time.\r\n\r\nAlleles with\u00a0<strong>Variable Expressivity<\/strong> will display a gradient of phenotypes within a population, with different individuals showing greater or lesser degrees of expression of the associated phenotype.\r\n<h4>Variable Penetrance<\/h4>\r\n<strong>Penetrance<\/strong> tells us the <em>probability that a phenotype will be expressed<\/em> given the presence of the associated genotype. Again, in all the examples we have seen so far, alleles have had 100% penetrance. Alleles with\u00a0<strong>Variable Penetrance<\/strong> won't always express their phenotypes, and so can't be tracked using typical patterns of inheritance.\r\n\r\n<img class=\"alignnone size-medium wp-image-114\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable-249x300.png\" alt=\"\" width=\"249\" height=\"300\" \/>\r\n\r\n<strong>Figure 1<\/strong>: This figure shows examples of what variable expressivity and penetrance might look like in three different populations of red flowers. In box A, we see a typical Mendelian scenario: all the flowers have the exact same phenotype. In box B, we see an alternative scenario where the allele for red colouration has variable expressivity. In box C, the allele for red colouration has normal expressivity but variable penetrance.\u00a0Remember, within a single box of this Figure,\u00a0<em>all the flowers have the exact same genotype.<\/em>\r\n\r\n[h5p id=\"21\"]\r\n\r\n<hr \/>\r\n\r\n<h3>Sex-Influenced Traits<\/h3>\r\nYou should already be familiar with sex-linked genes, which are found exclusively on sex chromosomes, and thus can show different inheritance patterns for males vs. females. However, not all traits that vary between sexes are caused by sex-linked genes: some are produced by<em> autosomal genes<\/em>! How can this be?\r\n\r\n<strong>Sex-influenced traits<\/strong> arise because the expression of the phenotype requires the presence of specific sex hormones and\\or products of sex-linked genes. For example, certain risk-alleles for breast cancer are autosomal, but are only activated in the presence of estrogen. Since men typically produce less estrogen, they are much less likely to exhibit the breast cancer phenotype than females. Other sex-influenced traits can show sex-related differences in which allele is dominant (e.g. for male-pattern baldness), or the timing or degree of phenotypic expression.\r\n\r\nIn some cases, the expression of an autosomal trait is never observed in one sex: we call these<strong> sex-limited traits<\/strong>, since the expression of the gene is limited to the other sex.\r\n\r\n<hr \/>\r\n\r\n<div class=\"textbox textbox--learning-objectives\"><header class=\"textbox__header\">\r\n<p class=\"textbox__title\"><em><strong>Mendel's Laws are the product of an exceptional model system<\/strong><\/em><\/p>\r\n\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\nMendel was actually exceptionally lucky in choosing his experimental traits:\r\n<ul>\r\n \t<li>All 7 of the traits he described in his pea plants are controlled by single genes,<\/li>\r\n \t<li>None of these genes are linked on the same chromosome,<\/li>\r\n \t<li>None of them are sex-linked,<\/li>\r\n \t<li>They all have exactly 2 alleles,<\/li>\r\n \t<li>They all exhibit complete dominance, complete penetrance, and complete expressivity.<\/li>\r\n<\/ul>\r\nAs we saw in this chapter, these \"regular\" genetic traits do a very poor job at representing the true diversity of genetic traits in nature, and if we are going to study genes we need to understand and appreciate all the exceptions to these rules.\r\n\r\n<\/div>\r\n<\/div>\r\nAlright that's a lot of new material to chew on! Let's see if we can synthesize it all together in the following exercises:\r\n<h3>Exercise 1: Red-eared sliders<\/h3>\r\n[h5p id=\"22\"]\r\n<h3>Exercise 2: Huntington's Disease<\/h3>\r\n[h5p id=\"23\"]\r\n<h3>Exercise 3: Red and White Petals<\/h3>\r\n[h5p id=\"19\"]","rendered":"<h1>Non-Mendelian Inheritance<\/h1>\n<p>So far in this course, we have seen that we can predict how traits are passed from parents to offspring using Mendel&#8217;s Laws of Inheritance (Self test: See if you can define all three, then refresh your memory with the glossary below) Unfortunately, in nature things are seldom so simple, and there are many cases where patterns of inheritance do not follow Mendel&#8217;s laws.\u00a0In this chapter, we will take a look at several examples of non-Mendelian inheritance.<\/p>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<p class=\"textbox__title\"><strong>Mendel&#8217;s Laws of Inheritance<\/strong><\/p>\n<\/header>\n<div class=\"textbox__content\">\n<div id=\"h5p-18\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-18\" class=\"h5p-iframe\" data-content-id=\"18\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Mendel&#039;s Laws of Inheritance\"><\/iframe><\/div>\n<\/div>\n<hr \/>\n<\/div>\n<\/div>\n<h3>Non-Mendelian Dominance<\/h3>\n<p>In Mendel&#8217;s peas, every trait Mendel described exhibited\u00a0<strong>complete dominance<\/strong>, meaning one allele would always mask the expression of the other.\u00a0Since Mendel&#8217;s time, other types of Dominant\/Recessive relationships have been described, including\u00a0<strong>Co-Dominance <\/strong>and\u00a0<strong>Incomplete Dominance<\/strong>.<\/p>\n<h4>Incomplete Dominance<\/h4>\n<p>To fully understand non-Mendelian modes of dominance, we need to first understand <em>why <\/em>alleles give rise to their associated traits. For example, we know that in Mendel&#8217;s peas, flower colour is controlled by a single gene with two alleles. One allele (Dominant) produces purple flowers, while the other (Recessive) produces white flowers. Why is this?<\/p>\n<p>It turns out that this gene codes for a protein that is needed to produce <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_76_117\">anthocyanin pigment<\/a>. The recessive allele codes for a non-functioning protein, and thus homozygous-recessive peas produce flowers with no anthocyanin pigment at all, giving them their white colour. If a plant has even one functioning copy of the allele, it can produce enough anthocyanin to completely dye its flowers purple, which is why heterozygous pea plants are still purple. This mechanism was described fairly recently, in 2010 (150 years after Mendel first described the phenotype!) If you want to learn more about the specifics of how this gene works, check out this article from New Zealand&#8217;s <a href=\"https:\/\/www.sciencelearn.org.nz\/resources\/2001-identifying-mendel-s-pea-genes\">Science Learning Hub<\/a>.<\/p>\n<p>In this case, one functioning allele produces enough pigment to produce the purple phenotype. What if this wasn&#8217;t the case? What if a homozygous plant with two copies of the purple allele produced twice as much pigment as a heterozygous plant with only one copy? We will consider this scenario in the following exercise:<\/p>\n<div id=\"h5p-24\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-24\" class=\"h5p-iframe\" data-content-id=\"24\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non-Mendelian Inheritance 6\"><\/iframe><\/div>\n<\/div>\n<p>This scenario, where the phenotype that arises from a given set of alleles is\u00a0<em>dose-dependent<\/em>, is an example of <strong>i<\/strong><strong>ncomplete dominance<\/strong>, where the recessive allele is not completely masked by the dominant allele. This typically leads to a third phenotype in heterozygotes, which looks like a muted version of the homozygous-dominant phenotype.<\/p>\n<h4><span style=\"font-family: Roboto, Helvetica, Arial, sans-serif;font-size: 1em\">Co-dominance<\/span><\/h4>\n<p>Co-dominance occurs when two alleles of the same gene are fully expressed at the same time in a heterozygous organism. This leads to a <em>heterogeneous<\/em> phenotype, where both parental phenotypes are expressed simultaneously and equally. This is distinct from incomplete dominance, where the phenotype of one allele only partially masks the phenotype of the other.<\/p>\n<p><em><strong>Hypothetical Case Study: Thorny Roses<\/strong><\/em><\/p>\n<p>Let&#8217;s imagine you are a geneticist in charge of breeding roses. The variety of rose you work with has two types of thorns, long (T<sup>L<\/sup>) and short (T<sup>S<\/sup>):<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-156 size-medium\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-280x300.png\" alt=\"Two roses, one with the short-thorn phenotype, one with the long-thorn phenotype.\" width=\"280\" height=\"300\" srcset=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-280x300.png 280w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-954x1024.png 954w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-768x824.png 768w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-1432x1536.png 1432w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-65x70.png 65w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-225x241.png 225w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose-350x376.png 350w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose.png 1454w\" sizes=\"auto, (max-width: 280px) 100vw, 280px\" \/><\/p>\n<p>Luckily, you are able to acquire pure-breeding lines for each phenotype. You cross these lines to produce F1 offspring, all of which have the following phenotype:<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-157 size-medium\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1-253x300.png\" alt=\"F1 rose, the product of a test-cross between pure-breeding parents with short-thorn and long-thorn phenotypes. Half of the thorns on the F1 rose are long, half are short.\" width=\"253\" height=\"300\" srcset=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1-253x300.png 253w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1-865x1024.png 865w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1-768x909.png 768w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1-65x77.png 65w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1-225x266.png 225w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1-350x414.png 350w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/rose1.png 951w\" sizes=\"auto, (max-width: 253px) 100vw, 253px\" \/><\/p>\n<p>Note that these F1 offspring both have short and long thorns in equal proportion. You then cross two F1 offspring and note the following phenotype ratios in the F2 offspring:<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-163\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2022\/06\/fixed-rose-image-214x300.png\" alt=\"Monohybrid cross between two roses\" width=\"327\" height=\"459\" \/><\/p>\n<p>These offspring ratios tell you a few things about the thorn-size phenotype. Test your understanding using the following exercise:<\/p>\n<div id=\"h5p-27\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-27\" class=\"h5p-iframe\" data-content-id=\"27\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non-Mendelian Inheritance 9\"><\/iframe><\/div>\n<\/div>\n<p>Contrast this scenario with the non-Mendelian pea flowers we discussed above. Heterozygote pea flowers express an intermediate phenotype that resembles a blend of the parental phenotypes. In this scenario, heterozygote roses express both parental phenotypes <em>simultaneously and equally<\/em>. Thus, we can say that the alleles for thorn-size are\u00a0<strong>co-dominant<em>\u00a0<\/em><\/strong>to each other.<\/p>\n<h4>Allelic Series<\/h4>\n<p>In all the scenarios we have considered so far, genes always have two alleles. In nature, it is common for genes to have more than two alleles, each with their own associated phenotype. In these cases, we say the gene exhibits <strong>multiple allelism<\/strong>.<\/p>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<div class=\"textbox shaded\">\n<div class=\"textbox textbox--exercises\"><\/div>\n<\/div>\n<\/header>\n<header class=\"textbox__header\">\n<div class=\"textbox shaded\"><\/div>\n<\/header>\n<header class=\"textbox__header\">\n<p class=\"textbox__title\"><em><strong>Hypothetical Case Study: Blue-spot Butterflies<\/strong><\/em><\/p>\n<\/header>\n<div class=\"textbox__content\">\n<p>Imagine you are a geneticist studying the rare blue-spot butterfly (sadly not a real insect). This butterfly has three distinct wing phenotypes: Small, medium, and large.<\/p>\n<\/div>\n<\/div>\n<div class=\"textbox__content\">\n<p><img loading=\"lazy\" decoding=\"async\" class=\"size-large wp-image-133\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly2-1024x320.png\" alt=\"The three wing-size phenotypes of the blue-spot butterfly.\" width=\"1024\" height=\"320\" srcset=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly2-1024x320.png 1024w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly2-300x94.png 300w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly2-768x240.png 768w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly2-65x20.png 65w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly2-225x70.png 225w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly2-350x109.png 350w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/p>\n<\/div>\n<p style=\"padding-left: 30px\">Through previous testing, you know that this phenotype is controlled at a single locus. At first glance, this looks like it could be a classic case of incomplete dominance, where heterozygous individuals produce a &#8220;blended&#8221; phenotype. However, while rearing the butterflies in the lab, you realize you can establish\u00a0<em>pure-breeding\u00a0<\/em><em>lines\u00a0<\/em>of each phenotype! What does this tell you about the system?<\/p>\n<div id=\"h5p-26\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-26\" class=\"h5p-iframe\" data-content-id=\"26\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non-Mendelian Inheritance 8\"><\/iframe><\/div>\n<\/div>\n<div class=\"textbox textbox--exercises\">\n<p style=\"padding-left: 30px\">Now that you have this new-found knowledge about the wing-size phenotype, you run the following test-crosses on pure-breeding lines of each phenotype:<\/p>\n<div class=\"textbox__content\">\n<p><img loading=\"lazy\" decoding=\"async\" class=\"size-large wp-image-134\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly5-1024x749.png\" alt=\"Test crosses to determine allele interactions. Crossing small-winged butterflies with medium-winged butterflies produces medium-winged offspring. Crossing small-winged and large-winged butterflies produces large-winged offspring. Crossing small-winged and large-winged butterflies produces large-winged offspring.\" width=\"1024\" height=\"749\" srcset=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly5-1024x749.png 1024w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly5-300x220.png 300w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly5-768x562.png 768w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly5-65x48.png 65w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly5-225x165.png 225w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/butterfly5-350x256.png 350w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/p>\n<p>&nbsp;<\/p>\n<p>Now this is an odd pattern! Let&#8217;s try to analyse it one piece of information at a time:<\/p>\n<ol>\n<li>The first test cross tells us that W<sup>M<\/sup> is dominant over W<sup>S<\/sup><\/li>\n<li>The second test cross tells us that W<sup>L<\/sup> is dominant over W<sup>S<\/sup><\/li>\n<li>The third test cross tells us that W<sup>L<\/sup> is also dominant over W<sup>M<\/sup><\/li>\n<\/ol>\n<p>It appears that there is a<em> hierarchy of dominance<\/em> between the three alleles, structured as W<sup>L<\/sup> &gt; W<sup>M<\/sup> &gt; W<sup>S<\/sup>.\u00a0What you&#8217;ve described here is an <strong>a<\/strong><strong>llelic series<\/strong>, a special case of multiple allelism where there is a set hierarchy for all the alleles involved.<\/p>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h4 class=\"textbox__title\"><strong>Summary<\/strong>: Non-Mendelian Dominance<\/h4>\n<\/header>\n<div class=\"textbox__content\">\n<p>Here are brief definitions of the three modes of non-Mendelian dominance discussed above<\/p>\n<ul>\n<li><strong>Incomplete dominance<\/strong> occurs when one copy of a dominant allele isn&#8217;t enough to completely mask the recessive phenotype.<\/li>\n<li><strong>Co-dominance<\/strong> occurs when both alleles of a gene are expressed equally in a heterozygote.<\/li>\n<li><strong>Allelic series<\/strong> occurs when there are more than two alleles for a given gene, and those alleles follow a set hierarchy of dominance.<\/li>\n<\/ul>\n<p>These cases can sometimes be difficult to tell apart, particularly incomplete dominance and co-dominance. Remember that all phenotypes have a molecular basis: genes code for proteins, and it is the action of these proteins that lead to visible phenotypes. Often, we need to investigate both the genetic basis and the <em>molecular basis<\/em> for a phenotype before we can fully understand why certain patterns of inheritance arise.<\/p>\n<\/div>\n<\/div>\n<hr \/>\n<h3>Lethal Alleles<\/h3>\n<p>Some genes carry out functions that are absolutely essential to the survival of an organism. For example, genes that control the development of heart muscles, or self-recognition by the immune system. These are broadly termed <strong>Essential Genes<\/strong>, because loss of function in these genes would be lethal under normal circumstances. Change-of-function mutations in these genes are, naturally, referred to as\u00a0<strong>Lethal Mutations<\/strong>, and alleles that carry lethal mutations are termed\u00a0<strong>Lethal Alleles<\/strong>. It may seem counter-intuitive that lethal alleles could persist within a population, but they do appear from time to time, and they tend to come with their own set of non-Mendelian quirks.<\/p>\n<h4><span style=\"font-family: Roboto, Helvetica, Arial, sans-serif;font-size: 1em\">Dominant Lethal Alleles<\/span><\/h4>\n<p>Dominant lethal alleles display complete dominance over the wild-type, making them difficult to\u00a0study &#8211; even one copy leads to death. In most cases, these alleles aren&#8217;t passed from parent to offspring, but instead arise spontaneously from mutations. One exception to this is Huntington&#8217;s Disease:<\/p>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<p class=\"textbox__title\"><em><strong>Case Study<\/strong>: <strong>Huntington&#8217;s Disease<\/strong><\/em><\/p>\n<\/header>\n<div class=\"textbox__content\">\n<p>A common example of a dominant lethal allele in humans is Huntington&#8217;s Disease (HD). HD is a late-onset neuro-degenerative disease; the life expectancy for people with HD is typically 40-50 years. HD is caused by mutations in the gene\u00a0<em>Huntingtin (htt)<\/em>, and even one copy of the mutant allele is enough to cause full progression of the disease.<\/p>\n<p>The late-onset of this disease is important: it allows a mutant copy of\u00a0<em>Huntingtin<\/em> to be passed to offspring before the disease shows any sign of progression. Keep this example in mind; we&#8217;ll be coming back to it later in the module.<\/p>\n<\/div>\n<\/div>\n<h4>Recessive Lethal Alleles<\/h4>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<p class=\"textbox__title\"><em><strong>Case Study:\u00a0Cu\u00e9not&#8217;s yellow mice<\/strong><\/em><\/p>\n<\/header>\n<div class=\"textbox__content\">\n<p>You are working with a population of lab-reared mice. These mice can either have yellow or black fur, and you want to figure out how the gene for fur colour is inherited. While performing test crosses between yellow mice, you notice the following pattern emerge repeatedly in their offspring:<\/p>\n<div class=\"textbox textbox--learning-objectives\">\n<div class=\"textbox__content\">\n<p style=\"text-align: center\">2 yellow : 1 black<\/p>\n<\/div>\n<\/div>\n<p>You might deduce that the yellow phenotype is dominant over black, but where is this odd ratio coming from? Shouldn&#8217;t you be seeing 3:1 yellow to black mice? By performing more test crosses, you realize that it is impossible to establish pure-breeding lines of yellow mice, meaning\u00a0<em>it is impossible for mice to be homozygous for the fur colour gene.\u00a0<\/em><\/p>\n<p>This is the exact scenario encountered by the French geneticist Lucien\u00a0Cu\u00e9not, who described this relationship in 1905. At the time, he didn&#8217;t know what caused this odd phenomenon, and it wasn&#8217;t until a few years later that his colleagues were able to tease it apart. It turns out that the gene for coat colour also controls a process that is essential to the development of mice embryos. The yellow allele of this gene carries a recessive mutation that alters mouse development, and kills the embryo. Thus, homozygous-yellow mice die\u00a0<em>in utero<\/em> and can never be observed in test crosses!<\/p>\n<p><span style=\"font-size: 1rem\">For a more comprehensive look at this story, and references to the original papers, see <a href=\"https:\/\/www.nature.com\/scitable\/topicpage\/mendelian-ratios-and-lethal-genes-557\/\">this article<\/a> from\u00a0<em>Nature<\/em>.\u00a0<\/span><\/p>\n<\/div>\n<\/div>\n<p>In modern genetics terms, we would say that the allele for yellow fur is <strong>pleiotropic<\/strong>, meaning it codes for multiple phenotypes. In this case, the primary phenotype (coat colour) is dominant, while the secondary phenotype (death) is recessive.<\/p>\n<p>This case is particularly interesting: The pleiotropy of the yellow allele is actually very important for the discovery of the recessive lethal phenotype; if the lethal allele wasn&#8217;t attached to a visible phenotype, we might never had noticed anything was wrong, aside from maybe reduced fecundity in our monohybrid crosses. In fact, most recessive lethal alleles aren&#8217;t connected to a dominant phenotype, and are completely invisible.\u00a0Thus, heterozygotes can unknowingly distribute them throughout a population with no indication that they ever carry a mutation.<\/p>\n<h4>Conditional Lethality<\/h4>\n<p>This last case is a bit odd, and can be difficult to identify.\u00a0<strong>Conditional Lethality\u00a0<\/strong>occurs when a given allele produces a lethal phenotype, but that phenotype is only expressed under certain environmental conditions.<\/p>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<p class=\"textbox__title\"><em><strong>Case Study:\u00a0Favism<\/strong><\/em><\/p>\n<\/header>\n<div class=\"textbox__content\">\n<p>Favism is a hereditary condition that affects certain people of Middle Eastern and Mediterranean descent. The condition is caused by a deficiency in the enzyme glucose-6-phosphate dehydrogenase, which is needed to breakdown sugars. This condition is dominant, X-linked, and is completely invisible most of the time.<\/p>\n<p>If an individual with the condition eats certain foods (fava beans, specifically) or takes certain medications, they experience a massive breakdown of red blood cells. The effects of this range from mild (anemia) to severe (blood clots, liver failure), and in extreme cases can be lethal. On the other hand, this condition is also protective against malaria, which is why it has persisted in affected populations despite it&#8217;s disastrous side effects.<\/p>\n<\/div>\n<\/div>\n<div id=\"h5p-25\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-25\" class=\"h5p-iframe\" data-content-id=\"25\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non-Mendelian Inheritance 7\"><\/iframe><\/div>\n<\/div>\n<hr \/>\n<h3>Conditional Expression of Alleles<\/h3>\n<p>As we just saw in the case of conditional lethality, phenotypes can sometimes be affected by <em>environmental factors<\/em>, independent of the genotype. This is actually very common in nature, and is broadly termed\u00a0<strong>Conditional Expression of Alleles<\/strong><em>.\u00a0<\/em>Many organs and tissues rely on conditional expression of alleles for normal function; for example, cells in your stomach lining should only produces acid when there is food present that needs digesting. Otherwise, there is a risk of the acid burning through the mucous that protects your stomach lining.<\/p>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\"><\/header>\n<div class=\"textbox__content\"><\/div>\n<\/div>\n<hr \/>\n<h3>Variable Expressivity and Penetrance<\/h3>\n<p>In all the cases we have seen so far &#8211; in both Mendelian and non-Mendelian modes of inheritance &#8211; individuals with a given genotype will always express the same phenotype. This, unfortunately, is not always the case.<\/p>\n<h4>Variable Expessivity<\/h4>\n<p><strong>Expressivity<\/strong>\u00a0tells us the <em>degree to which a phenotype will be expressed<\/em> for an individual with a particular genotype. In all the examples we have seen so far, all alleles have had 100% expressivity, meaning a specific genotype will produce a specific phenotype 100% of the time.<\/p>\n<p>Alleles with\u00a0<strong>Variable Expressivity<\/strong> will display a gradient of phenotypes within a population, with different individuals showing greater or lesser degrees of expression of the associated phenotype.<\/p>\n<h4>Variable Penetrance<\/h4>\n<p><strong>Penetrance<\/strong> tells us the <em>probability that a phenotype will be expressed<\/em> given the presence of the associated genotype. Again, in all the examples we have seen so far, alleles have had 100% penetrance. Alleles with\u00a0<strong>Variable Penetrance<\/strong> won&#8217;t always express their phenotypes, and so can&#8217;t be tracked using typical patterns of inheritance.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-114\" src=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable-249x300.png\" alt=\"\" width=\"249\" height=\"300\" srcset=\"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable-249x300.png 249w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable-768x926.png 768w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable-849x1024.png 849w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable-65x78.png 65w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable-225x271.png 225w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable-350x422.png 350w, https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-content\/uploads\/sites\/816\/2019\/11\/Variable.png 1806w\" sizes=\"auto, (max-width: 249px) 100vw, 249px\" \/><\/p>\n<p><strong>Figure 1<\/strong>: This figure shows examples of what variable expressivity and penetrance might look like in three different populations of red flowers. In box A, we see a typical Mendelian scenario: all the flowers have the exact same phenotype. In box B, we see an alternative scenario where the allele for red colouration has variable expressivity. In box C, the allele for red colouration has normal expressivity but variable penetrance.\u00a0Remember, within a single box of this Figure,\u00a0<em>all the flowers have the exact same genotype.<\/em><\/p>\n<div id=\"h5p-21\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-21\" class=\"h5p-iframe\" data-content-id=\"21\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non-Mendelian Inheritance 3\"><\/iframe><\/div>\n<\/div>\n<hr \/>\n<h3>Sex-Influenced Traits<\/h3>\n<p>You should already be familiar with sex-linked genes, which are found exclusively on sex chromosomes, and thus can show different inheritance patterns for males vs. females. However, not all traits that vary between sexes are caused by sex-linked genes: some are produced by<em> autosomal genes<\/em>! How can this be?<\/p>\n<p><strong>Sex-influenced traits<\/strong> arise because the expression of the phenotype requires the presence of specific sex hormones and\\or products of sex-linked genes. For example, certain risk-alleles for breast cancer are autosomal, but are only activated in the presence of estrogen. Since men typically produce less estrogen, they are much less likely to exhibit the breast cancer phenotype than females. Other sex-influenced traits can show sex-related differences in which allele is dominant (e.g. for male-pattern baldness), or the timing or degree of phenotypic expression.<\/p>\n<p>In some cases, the expression of an autosomal trait is never observed in one sex: we call these<strong> sex-limited traits<\/strong>, since the expression of the gene is limited to the other sex.<\/p>\n<hr \/>\n<div class=\"textbox textbox--learning-objectives\">\n<header class=\"textbox__header\">\n<p class=\"textbox__title\"><em><strong>Mendel&#8217;s Laws are the product of an exceptional model system<\/strong><\/em><\/p>\n<\/header>\n<div class=\"textbox__content\">\n<p>Mendel was actually exceptionally lucky in choosing his experimental traits:<\/p>\n<ul>\n<li>All 7 of the traits he described in his pea plants are controlled by single genes,<\/li>\n<li>None of these genes are linked on the same chromosome,<\/li>\n<li>None of them are sex-linked,<\/li>\n<li>They all have exactly 2 alleles,<\/li>\n<li>They all exhibit complete dominance, complete penetrance, and complete expressivity.<\/li>\n<\/ul>\n<p>As we saw in this chapter, these &#8220;regular&#8221; genetic traits do a very poor job at representing the true diversity of genetic traits in nature, and if we are going to study genes we need to understand and appreciate all the exceptions to these rules.<\/p>\n<\/div>\n<\/div>\n<p>Alright that&#8217;s a lot of new material to chew on! Let&#8217;s see if we can synthesize it all together in the following exercises:<\/p>\n<h3>Exercise 1: Red-eared sliders<\/h3>\n<div id=\"h5p-22\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-22\" class=\"h5p-iframe\" data-content-id=\"22\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non-Mendelian Inheritance 4\"><\/iframe><\/div>\n<\/div>\n<h3>Exercise 2: Huntington&#8217;s Disease<\/h3>\n<div id=\"h5p-23\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-23\" class=\"h5p-iframe\" data-content-id=\"23\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non-Mendelian Inheritance 2\"><\/iframe><\/div>\n<\/div>\n<h3>Exercise 3: Red and White Petals<\/h3>\n<div id=\"h5p-19\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-19\" class=\"h5p-iframe\" data-content-id=\"19\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non-Mendelian Inheritance 1\"><\/iframe><\/div>\n<\/div>\n<div class=\"glossary\"><span class=\"screen-reader-text\" id=\"definition\">definition<\/span><template id=\"term_76_117\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_76_117\"><div tabindex=\"-1\"><p>Anthocyanins are a family of organic pigments that are commonly found in plants. They range in colour from red to blue to purple.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><\/div>","protected":false},"author":792,"menu_order":2,"template":"","meta":{"pb_show_title":"","pb_short_title":"","pb_subtitle":"","pb_authors":[],"pb_section_license":""},"chapter-type":[],"contributor":[],"license":[],"class_list":["post-76","chapter","type-chapter","status-publish","hentry"],"part":3,"_links":{"self":[{"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/pressbooks\/v2\/chapters\/76","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/pressbooks\/v2\/chapters"}],"about":[{"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/wp\/v2\/types\/chapter"}],"author":[{"embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/wp\/v2\/users\/792"}],"version-history":[{"count":25,"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/pressbooks\/v2\/chapters\/76\/revisions"}],"predecessor-version":[{"id":171,"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/pressbooks\/v2\/chapters\/76\/revisions\/171"}],"part":[{"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/pressbooks\/v2\/parts\/3"}],"metadata":[{"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/pressbooks\/v2\/chapters\/76\/metadata\/"}],"wp:attachment":[{"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/wp\/v2\/media?parent=76"}],"wp:term":[{"taxonomy":"chapter-type","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/pressbooks\/v2\/chapter-type?post=76"},{"taxonomy":"contributor","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/wp\/v2\/contributor?post=76"},{"taxonomy":"license","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/sfubisc202\/wp-json\/wp\/v2\/license?post=76"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}