Name: sox10 and multiple traits in pleiotropy
Uploaded: 2019-03-11T09:21:17.000Z
Duration: 1 min 33 s
Channel: JoVE

K12 Standards

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North Carolina K-12 Science Standard Course of Study

9-12

Biology

heredity-inheritance-and-variation-of-traits

Heredity- Inheritance and Variation of Traits

LS.Bio.7.3

Pleiotropy

在基因多效性中 一个基因
 
 影响着几个独特的表现型
 
 例如 在人体中 一个SOX10基因的复制出现异常
 
 缺失了一部分基因 可能造成
 
 白色额发 异色虹膜
 
 以及部分皮肤未染色
 
 因此这个基因能够影响头发 眼睛 以及皮肤的表现型
 
 而这些非典型特性是一个更严重的紊乱的症状
 
 这个更严重的失调被称为瓦登伯格综合征VI型 简称WS4
 
 然而 SOX10所扮演的角色并不限于皮肤染色
 
 由于WS4患者的大肠
 
 缺少神经系统用来控制
 
 肠道收缩的一些组成
 
 结果 粪便堵塞以及结肠增大
 
 就成为WS4患者的特征
 
 所以SOX10也会塑造肠道的表现型
 
 重要的是 在胚胎发育初期它的表现
 
 可以解释基因的影响力
 
 因为它的产物在成型中的染色细胞
 
 以及某些神经组织中被找到
 
 有趣的是 SOX10蛋白也在
 
 未来形成的耳朵中被观察到
 
 显示这个基因也会参与其它的表现型的决定
 
 听力障碍与耳聋明显伴随WS4
 
 支持了这一假设
 
 因此 有时与一个紊乱关联的多个特性
 
 都是来自单个多效性基因

Lango Allen， Hana， Karol Estrada， Guillaume Lettre， Sonja I. Berndt， Michael N. Weedon， Fernando Rivadeneira， Cristen J. Willer， et al. "数百个变异聚集在基因组位点和生物途径影响人类身高。"自然 467，第 7317 期（2010 年 10 月 14 日）:832-38。[<a href="https://doi.org/10.1038/nature09410" target="__blank">来源</a>]

门登霍尔、戈登、托马斯·梅尔滕斯和乔恩·亨德里克斯。"指纹岭计数:课堂教学中有用的多基因性状。"美国生物教师 51，第 4 期（1989 年 4 月 1 日）:203-7。[<a href="https://doi.org/10.2307/4448904" target="__blank">来源</a>]

基因多效性

多效性是一个基因影响多个看似不相关的表型性状的现象。例如，sox10基因的缺陷会导致瓦登伯革氏症候群4型或ws4，这可能导致色素沉着缺陷、听力损伤和消除所需的肠收缩缺失。这种表型的多样性是由早期胚胎和胎儿发育中sox10的表达模式造成的。sox10存在于形成黑素细胞的神经嵴细胞中，黑素细胞参与色素沉着和耳朵的早期发育。SOX10也在神经组织中表达，最终形成肠道神经系统，控制排泄废物所需的收缩。这样，sox10表现出多效性，因为它影响多种表型。

<h4>SOX10 多效性效应</h4>
 
多效性可以通过几种机制产生。当一个基因由于编码一种与多种蛋白质相互作用或催化多种反应的产物而具有多种功能时，就会发生基因多效性。例如，在人类中，SOX10基因的一个异常拷贝，其中一个区域被删除，可能导致发育缺陷，包括白色前锁、不同颜色的虹膜（例如，一个蓝色和一个棕色）和未染色的皮肤区域。这些特征都是一种叫做 瓦登伯革氏症候群4型或叫WS4的疾病症状，WS4是一种常染色体隐性遗传疾病，可导致多种色素缺陷。WS4中SOX10的多效性作用延伸到与色素沉着似乎无关的其它症状，如听力丧失。患有 WS4的患者也会出现肠收缩乏力，导致结肠扩大和排泄困难。这些症状表明，除了影响色素沉着外，SOX10 还影响听力，并导致肠道表型异常。
 
<h4>早期发育表达模式</h4>
 
SOX10发挥其多效性作用的能力可以通过其在早期胚胎和胎儿发育中的表达来解释，在早期胚胎和胎儿发育过程中，它在神经嵴细胞中被发现，最终导致称为黑素细胞的色素细胞的形成。除了色素沉着，黑素细胞也会影响听力，就像在发育中的耳朵中发现的那样。SOX10也表达于终末后肠的神经节细胞中，这些神经节细胞有助于胃肠道的形成和控制肠收缩。这解释了消除问题和扩大冒号在一些WS4 个人。因此，SOX10是多效性基因的一个例子，因为它对几个发育过程有影响，并影响多个表型性状。

多效性是指单个基因影响多个看似无关的表型性状的现象。例如，SOX10 基因的缺陷会导致……

Education

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Classical and Modern Genetics

经典遗传学与现代遗传学

KEY TERMS AND CONCEPTS

关键术语与概念

sox10 and multiple traits in pleiotropy

Pleiotropy is when one gene affects more than one trait. The SOX10 gene is a clear example because it can influence pigmentation, hearing, and intestinal movement. These traits may seem unrelated, but they can all be linked to the same gene change.

In humans, a deleted region in SOX10 can cause Waardenburg Syndrome Type 4, or WS4. WS4 is an autosomal recessive disorder, which means a person usually inherits two altered copies of the gene. Common signs include a white forelock, different-colored irises, and patches of unpigmented skin. The syndrome can also cause hearing loss.

SOX10 affects more than pigment because of where it is active during early development. It is found in neural crest cells, which give rise to melanocytes, the cells involved in pigmentation. These cells also help with early ear development, which helps explain the hearing problems seen in WS4.

SOX10 is also expressed in nerve tissue that later contributes to the enteric nervous system in the gut. This system controls intestinal contractions needed for waste elimination. When SOX10 does not work properly, some individuals develop an enlarged colon and have trouble eliminating waste. These effects show how one gene can shape several developmental processes at once.

SOX10 and Multiple Traits in Pleiotropy

genetic lingo

Genotype, Phenotype, and Inheritance

Genotype, phenotype, and inheritance help explain how traits and disease risk are passed from parents to offspring. In diploid organisms, including humans, most other animals, and many plants, somatic cells carry a duplicate set of chromosomes. These chromosome pairs are homologous, with similar length, centromere position, and gene locations. Diploid organisms inherit two versions of each gene, one from each parent. These versions are called alleles, and they sit at the same relative locus,...

punnett squares

Punnett Squares for Predicting Traits

Punnett squares help predict which traits offspring may inherit from two parents. They show possible genotypes, which are pairs of alleles, and can also show the chance of a phenotype, or visible trait, when the inheritance pattern is known. These grids work best for traits controlled by a single gene locus and passed on independently during meiosis. Punnett squares were developed in the early 1900s by Reginald Punnett. His work came after Gregor Mendel’s pea plant experiments revealed the...

monohybrid crosses

Mendel’s Pea Plant Inheritance Ratios

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dihybrid crosses

Mendel's Law of Independent Assortment

Mendel’s law of independent assortment explains how two traits can be inherited separately. Gregor Mendel tested this idea with pea plants that differed in two characteristics, such as pea color and pea shape. He used true-breeding parents that were homozygous for both traits but showed different phenotypes. In one example, Mendel crossed round, yellow peas with wrinkled, green peas. The parental generation had RRYY and rryy genotypes. Their first-generation offspring were all dihybrids,...

law of segregation

Mendel’s Pea Cross Ratios

Mendel’s pea plant crosses show how traits can disappear in one generation and return in the next. When he crossed plants, one parental trait sometimes seemed to vanish in the F1 generation and reappear in the F2 generation. Mendel used this pattern to explain why some traits are dominant and others are recessive. He proposed that traits are controlled by alleles, which are different versions of a gene. An organism inherits two copies of each gene, one from each parent. In his model, a...

law of independent assortment

Mendel’s Dihybrid Cross and Trait Ratios

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probability laws

Inheritance Risk with Sum and Product Rules

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test cross

Using Test Crosses to Identify Genotypes

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polygenic traits

Polygenic Traits in Human Height

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pedigree analysis

Reading Family Traits in Pedigrees

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multiple allele traits

Blood Type and Allele Interactions

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epistasis

Gene Masking in Rabbit Fur Color

Epistasis describes how one gene can mask or change the effect of another gene. In high school genetics, this helps explain why many traits do not follow a simple single-gene pattern. Instead, alleles at different locations can work together to shape the final phenotype. Mendel studied seven unrelated pea traits, but most traits involve multiple gene interactions. Epistasis often happens when one gene interferes with the expression of another gene. It can also occur when genes are part of the...

nature and nurture

Genes and Environment Shape Height

Genes and environment both shape human height and other traits. Genes are the inherited instructions we get from our parents. Environment includes factors such as diet, stress, and social conditions. Many phenotypes, or observable traits, reflect both influences. Some also show up later in life, including cancer and other diseases. Height is a clear example of this interaction. Scientists estimate that 70-90% of height variation comes from genetic differences among people. The remaining 10-30%...

pleiotropy

Pleiotropy is when one gene affects more than one trait. The SOX10 gene is a clear example because it can influence pigmentation, hearing, and intestinal movement. These traits may seem unrelated, but they can all be linked to the same gene change. In humans, a deleted region in SOX10 can cause Waardenburg Syndrome Type 4, or WS4. WS4 is an autosomal recessive disorder, which means a person usually inherits two altered copies of the gene. Common signs include a white forelock,...

sex-linked disorders

X- and Y-Linked Disorder Patterns

X- and Y-linked disorders come from mutations in genes on the sex chromosomes. These genes, like those on autosomes, are needed for normal body function. When a mutation causes a biological problem, the condition is called sex-linked. Y-linked disorders come from changes in the Y chromosome. They affect only males, because only males carry a Y chromosome. Mutations in this small chromosome can affect male sexual function and secondary sex characteristics. One example is Y-chromosome...

x-linked traits

X-Linked Inheritance in Families

X-linked inheritance explains how traits on the X chromosome are passed through families. In most mammalian species, females have two X sex chromosomes, while males have one X and one Y. A mutation on one X chromosome may be masked in females by a normal allele on the other X. In males, that same mutation is more likely to show because there is no second normal X to balance it. Traits caused by changes on the X chromosome are called X-linked traits. Color blindness is a well-studied example.

x-inactivation

Barr Bodies and X-Chromosome Balance

Barr bodies and X-chromosome balance help explain how female mammalian cells control gene activity from the X chromosome. The human X chromosome carries far more genes than the Y chromosome. Because males usually have one X chromosome and females have two, females would make twice as many of some proteins without a control system. To prevent that imbalance, female mammalian cells inactivate nearly all the genes on one X chromosome during early embryonic development. The inactive X condenses...

non-nuclear inheritance

Maternal DNA in Mitochondria and Chloroplasts

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chromosomal theory of inheritance

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Genes map to chromosomes, and this idea explains how Mendel’s inheritance patterns work. Gregor Mendel published his pea plant breeding results in 1866. He showed that physical traits follow predictable patterns. At the time, scientists did not yet know that genes existed. Mendel used the word "factors" for the hereditary units he studied. The details behind Mendel’s laws of segregation and independent assortment were still unknown for many years. In the late 1800s, better microscopes and...

key terms and concepts

Explore how the SOX10 gene affects pigmentation, hearing, and gut movement in Waardenburg Syndrome Type 4, a classic example of pleiotropy.

SOX10 and Multiple Traits in Pleiotropy | JoVE K12

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Alabama Course of Study Science

Heredity: Inheritance and Variation of Traits

9-12.B.3.11.b

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New York State Science Learning Standards

Inheritance and Variation of Traits

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SOX10 and Multiple Traits in Pleiotropy

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