Name: sox10 and multiple traits in pleiotropy
Uploaded: 2019-03-11T09:21:17.000Z
Duration: 1 min 33 s
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Heredity- Inheritance and Variation of Traits

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Pleiotropy

Во время плейотропии, один ген влияет на несколько уникальных фенотипов. Например, у людей, аномальная копия гена SOX10 при удалении региона может стать причиной для отдельных лиц иметь белую прядь волос, разноцветные радужки, и области непигментированной кожи, таким образом, этот ген может воздействовать на фенотипы волос, глаз и кожи. И это нетипичные черты симптомы более крупного расстройства, называемого Синдром Ваарденбурга Тип 4, сокращённо WS4.Однако роль SOX10 не ограничена пигментацией, так как толстый кишечник пациентов с WS4 не имеете компонентов нервной системы, которые контролируют кишечные схватки. В результате возникают запоры, и увеличение толстой кишки, характерные для WS4 так что, SOX10 также формирует фенотип кишечника. Важно, что их выражение в ранний период развития может объяснить эффекты этого гена, по мере обнаружения его продукта в формирующихся пигментных клетках и некоторых нервных тканях.Интересно, что белок SOX10 также наблюдается в компонентах будущего уха, предполагая, что этот ген способствует развитию других фенотипов, гипотеза, поддержанная нарушениями слуха, и глухотой, иногда сопутствующей WS4. Так что, иногда несколько черт связаны с этим расстройством, происходящим от индивидуального гониотропного гена.

Ланго Аллен, Хана, Кароль Эстрада, Гийом Леттр, Соня И. Берндт, Майкл Н. Уидон, Фернандо Риваденейра, Кристен Дж. Виллер и др. "Сотни вариантов, сгруппированных в геномных локусах и биологических путях, влияют на рост человека." Nature 467, No7317 (14 октября 2010 г.): 832–38. [<a href="https://doi.org/10.1038/nature09410" target="__blank">Источник</a>]

Менденхолл, Гордон, Томас Мертенс и Джон Хендрикс. "Количество отпечатков пальцев: полигенная черта, полезная при обучении в классе." Американский учитель биологии 51, No4 (1 апреля 1989): 203–7. [<a href="https://doi.org/10.2307/4448904" target="__blank">Источник</a>]

Плейотропия

Плейотропия – это явление, при котором один ген влияет на несколько, казалось бы, не связанных фенотипических признаков. Например, дефекты гена SOX10 вызывают синдром Ваарденбурга типа 4, или WS4, который может вызвать дефекты пигментации, нарушения слуха и отсутствие кишечных сокращений, необходимых для эвакуации. Это разнообразие фенотипов является результатом экспрессии модели SOX10 в раннем эмбриональном и фетальном развитии. SOX10 находится в нервных клетках гребня, которые образуют меланоциты, которые участвуют в пигментации, а также в раннем развитии уха. SOX10 также выражается в нервной ткани, что в конечном итоге способствует энтерической нервной системы в кишечнике, которая контролирует сокращения, необходимые для ликвидации отходов. Таким образом, SOX10 проявляет плейотропные эффекты, потому что он влияет на несколько фенотипов.

<h4> Плейотропные эффекты SOX10 </h4>

 Плейотропия может возникать по нескольким причинам. Плейотропия гена возникает, когда ген выполняет различные функции из-за кодирования продукта, который взаимодействует с несколькими белками или катализирует несколько реакций. Например, у людей аномальная копия гена SOX10 , в которой удалена область, может привести к дефектам развития, которые включают белый чуб, разноцветные радужки (например, один синий и один коричневый) и участки непигментированной кожи. Все эти признаки являются симптомами расстройства, называемого синдромом Ваарденбурга типа 4 или WS4, аутосомно-рецессивным заболеванием, которое приводит к множественным дефектам пигментации. Плейотропные эффекты SOX10 в WS4 распространяются на дополнительные симптомы, по-видимому, не связанные с пигментацией, такие как потеря слуха. Люди с WS4 также страдают от отсутствия кишечных сокращений, что приводит к увеличению толстой кишки и трудностям с удалением отходов. Эти симптомы указывают на то, что SOX10 не только влияет на пигментацию, но и влияет на слух и способствует аномальному фенотипу кишечника. 

<h4> Паттерны выражения на раннем этапе развития </h4>

 Способность SOX10 проявлять плейотропные эффекты может быть объяснена его экспрессией на ранних этапах эмбрионального и эмбрионального развития, во время которого он обнаруживается в клетках нервного гребня, что в конечном итоге приводит к образованию пигментных клеток. называется меланоцитами. Помимо пигментации, меланоциты влияют на слух, так как они находятся в развивающемся ухе. SOX10 также экспрессируется в ганглиозных клетках концевого отдела задней кишки, которые участвуют в формировании желудочно-кишечного тракта и контролируют кишечные сокращения. Это объясняет проблемы выведения и увеличения толстой кишки у некоторых людей WS4. Таким образом, SOX10 является примером плейотропного гена, поскольку он влияет на несколько процессов развития и влияет на несколько фенотипических признаков.

Плейотропия — это явление, при котором один ген влияет на множественные, казалось бы, не связанные между собой фенотипические признаки. Например, дефекты в гене SOX10 вызывают ...

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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,...

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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...

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Mendel’s Pea Plant Inheritance Ratios

Gregor Mendel used pea plants to study how traits are passed from parents to offspring. His breeding experiments in the 1850s and 1860s showed that inheritance follows clear patterns. He crossed true-breeding plants that differed in one trait and found that dominant traits can hide recessive traits. Mendel focused on seven pea plant traits, and each trait had two forms controlled by a single gene locus. He noticed that true-breeding plants always produced offspring with the same phenotype, or...

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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

Mendel’s dihybrid cross shows how two traits are inherited at the same time. A dihybrid cross is a cross in which both parents are homozygous for two distinct traits, and the F1 generation is heterozygous for both traits. Mendel used pea plants with round yellow peas and wrinkled green peas as an example. One parent had genotype YYRR, and the other had genotype yyrr. In the F1 generation, every plant showed the dominant traits, so the plants were YyRr and had yellow, round peas. The F2...

probability laws

Inheritance Risk with Sum and Product Rules

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Using Test Crosses to Identify Genotypes

Test crosses are used to identify the genotype of an organism with a dominant trait. A genotype is the pair of alleles inherited for a gene, and alleles are different forms of the same gene. In diploid organisms, including humans, each gene usually has two alleles, one from each parent. An allele is recessive when its effect is hidden by another allele at the same gene location. Pea plants provide a clear example with flower color. White flowers are recessive, because one copy of the purple...

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Polygenic Traits in Human Height

Polygenic traits are traits controlled by more than one gene. Human height is a clear example of this kind of inheritance. Because many genes work together, the final trait can vary a lot from person to person. Researchers have found hundreds of loci, or gene locations, that influence height. There are likely many more that have not yet been identified. Many of these genes affect cartilage in the growth plates of the long bones in the arms and legs, either directly or indirectly. Height is...

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Reading Family Traits in Pedigrees

Pedigrees are family trees used to track how a trait passes through generations. They help scientists and students see whether a trait is dominant or recessive, whether it is autosomal or sex-linked, what genotypes family members may have, and what phenotypes may appear in future generations. For families with a history of inherited disease, this information can be important for family planning. In plants and animals, inheritance is often studied with crosses. Monohybrid crosses can show...

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Blood Type and Allele Interactions

Multiple alleles can shape traits through blood type, sickle cell anemia, incomplete dominance, and codominance. Multiple allelism means a gene has three or more allelic forms. Diploid organisms, including humans, usually carry only two alleles for each gene, but many human genes exist in multiple forms in the population. Human blood type is a clear example of multiple allelism. The blood type gene has three alleles: I A , I B , and i. These alleles help determine which blood type a person has...

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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...

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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...

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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.

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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...

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Maternal DNA in Mitochondria and Chloroplasts

Maternal DNA in mitochondria and chloroplasts explains how some genes are inherited outside the nucleus. Most DNA is in the nucleus, but mitochondria and chloroplasts in the cell cytoplasm also carry their own DNA and can copy it independently of nuclear DNA. Mitochondria are found in both plant and animal cells. They are called the powerhouses of eukaryotic cells because they break down glucose to make energy for cellular activity. Mitochondrial DNA has about 37 genes, and many help with...

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How Genes Map to Chromosomes

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...

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

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SOX10 and Multiple Traits in Pleiotropy

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