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

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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

- [Anlatıcı] Pleiotropi sırasında tek bir gen, birkaç özgün fenotipi etkiler.
 Örneğin insanlarda, SOX10 geninin bir bölgesi silinerek elde edilen anormal kopyası, bireylerin beyaz saç perçemine, farklı renkte irislere ve pigmentsiz cilt bölgelerine sahip olmalarına sebep olur.
 Yani bu gen, saç, göz ve cilt fenotiplerini etkileyebilir.
Bu atipik özellikler Waardenburg sendromu (kısaca WS4) adıyla bilinen daha geniş bir bozukluğun semptomlarıdır.
 Ancak SOX10'nun rolü pigmentasyonla sınırlı değil; WS4 hastalarının kalın bağırsaklarında, sinir sisteminin bağırsak kasılmalarını kontrol eden bileşenleri yoktur.
 Sonuç olarak atık tıkanıklıkları ve genişleyen kolonlar WS4 için karakteristiktir.
SOX10 ayrıca bağırsak fenotipini de şekillendirir.
 Asıl önemlisi, erken gelişim döneminde bunun ekspresyonu, bu genin etkilerini açıklayabilir, çünkü bir ürünü pigment hücreleriyle sinir dokularının oluşmasında yer alır.
 İlginç bir biçimde SOX10 proteini ileriki kulak bileşenlerinde de görülmüştür, bu ise bu genin başka fenotiplere katkı yaptığını gösterir: Ara sıra WS4'te rastlanan işitme bozuklukları ve sağırlık tarafından desteklenen bir hipotez.
Bazen bir bozuklukla ilişkili çoklu özellikler, tekil bir pleiotropik genden kaynaklanır.

Lango Allen, Hana, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, et al. "Genomik Lokuslarda ve Biyolojik Yollarda Kümelenmiş Yüzlerce Varyant İnsan Boyunu Etkiler." Nature 467, no. 7317 (14 Ekim 2010): 832–38. [<a href="https://doi.org/10.1038/nature09410" target="__blank">Kaynak</a>]

Mendenhall, Gordon, Thomas Mertens ve Jon Hendrix. "Parmak İzi Sırt Sayısı: Sınıf Eğitiminde Yararlı Bir Poligenik Özellik." Amerikan Biyoloji Öğretmeni 51, no. 4 (1 Nisan 1989): 203–7. [<a href="https://doi.org/10.2307/4448904" target="__blank">Kaynak</a>]

pleiotropi

Pleiotropi, tek bir genin birden fazla, görünüşte ilgisiz fenotipik özellikleri etkilediği bir olgudur. Örneğin, SOX10 genindeki kusurlar, Waardenburg sendromu tip 4 veya WS4’e neden olur, bu da pigmentasyon kusurlarına, işitme bozukluklarına ve eliminasyon için gerekli bağırsak kasılmalarının yokluğuna neden olabilir. Bu fenotip çeşitliliği, erken embriyonik ve fetal gelişimde SOX10 ekspresyon paterninden kaynaklanır. SOX10, pigmentasyonda ve ayrıca kulağın erken gelişiminde yer alan melanositleri oluşturan nöral krest hücrelerinde bulunur. SOX10 ayrıca sinir dokusunda da ifade edilir, bu da sonunda bağırsaktaki enterik sinir sistemine katkıda bulunur ve bu da atık eliminasyonu için gerekli kasılmaları kontrol eder. Bu şekilde, SOX10 pleiotropik etkiler sergiler, çünkü çoklu fenotipleri etkiler.

<h4>Pleiotropik Etkileri SOX10</h4>

Pleiotropi çeşitli mekanizmalarla ortaya çıkabilir. Bir gen birden fazla protein ile etkileşime girer veya birden fazla reaksiyonlar katalize bir ürün kodlama sayesinde çeşitli fonksiyonları varsa gende pleiotropi oluşur. Örneğin, insanlarda, bir bölgenin silindiği SOX10 geninin anormal bir kopyası, beyaz bir perçem, farklı renkli süsenler (örneğin, bir mavi ve bir kahverengi) ve pigmentsiz cilt bölgelerini içeren gelişimsel kusurlara yol açabilir. Bu özelliklerin tümü, çoklu pigment kusurlarına yol açan otozomal resesif bir bozukluk olan Waardenburg sendromu tip 4 veya WS4 adı verilen bir bozukluğun belirtileridir. WS4’deki SOX10<‘/em> ‘un pleiotropik etkileri, işitme kaybı gibi pigmentasyonla ilgisiz görünen ek semptomlara doğru uzanır. WS4’li bireyler ayrıca bağırsak kasılmalarının eksikliğinden muzdariptir, bu da genişlemiş bir kolon ve atıkları ortadan kaldırmada zorluklara neden olur. Bu semptomlar, pigmentasyonu etkilemenin yanı sıra, SOX10<‘/em> ‘un da işitmeyi etkilediğini ve anormal bir bağırsak fenotipine katkıda bulunduğunu göstermektedir.

<h4>Erken Gelişim İfade Kalıpları</h4>

SOX10 ' in pleiotropik etkilerini uygulama yeteneği, erken embriyonik ve fetal gelişimdeki ekspresyonu ile açıklanabilir; bu sırada, sonunda melanosit adı verilen pigment hücrelerinin oluşumuna yol açan nöral kret hücrelerinde bulunur. Pigmentasyona ek olarak, melanositler gelişmekte olan kulakta bulunduklarından işitmeyi etkiler. SOX10, gastrointestinal sistemin oluşumuna ve bağırsak kasılmalarının kontrolüne katkıda bulunan terminal hindgut ganglion hücrelerinde de ifade edilir. Bu, bazı WS4 bireylerinde eliminasyon problemlerini ve genişlemiş kolonları açıklar. Bu nedenle, SOX10, bir pleiotropik genin bir örneğidir, çünkü çeşitli gelişimsel süreçler üzerinde bir etkiye sahiptir ve çoklu fenotipik özellikleri etkiler.

Pleiotropi

Pleiotropi, tek bir genin çoklu, görünüşte ilgisiz fenotipik özellikleri etkilediği olgudur. Örneğin, SOX10 genindeki kusurlar ...

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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,...

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

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...

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

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...

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Polygenic Traits in Human Height

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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

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nature and nurture

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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

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x-inactivation

Barr Bodies and X-Chromosome Balance

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non-nuclear inheritance

Maternal DNA in Mitochondria and Chloroplasts

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chromosomal theory of inheritance

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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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Heredity: Inheritance and Variation of Traits

9-12.B.3.11.b

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Inheritance and Variation of Traits

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause ...

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SOX10 and Multiple Traits in Pleiotropy

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