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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Biology

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Heredity- Inheritance and Variation of Traits

LS.Bio.7.3

Pleiotropy

Während der Pleiotropie beeinflusst ein Gen mehrere einzigartige Phänotypen.
 Beispielsweise kann beim Menschen eine abnormale Kopie des SOX10-Gens, bei der eine Region gelöscht ist, dazu führen, dass Individuen eine weiße Stirnlocke, verschiedenfarbige Iris und Regionen unpigmentierter Haut haben.
 Somit kann dieses Gen die Phänotypen von Haar, Auge und Haut beeinflussen.
 Diese atypischen Merkmale sind Symptome einer größeren Störung namens Waardenburg-Syndrom Typ 4, abgekürzt WS4.
 Die Rolle von SOX10 ist jedoch nicht auf die Pigmentierung beschränkt, da dem Dickdarm von WS4-Patienten Komponenten des Nervensystems fehlen, die die Darmkontraktionen kontrollieren.
 Folglich sind Verstopfungen und ein vergrößerter Darm charakteristisch für WS4.
 SOX10 prägt auch den Darmphänotyp.
 Wichtig ist, dass seine Expression während der frühen Entwicklung die Auswirkungen dieses Gens erklären kann, da seine Auswirkungen in der Bildung von Pigmentzellen und bestimmtem Nervengewebe nachweisbar sind.
 Interessanterweise wird das SOX10-Protein auch in Komponenten des zukünftigen Ohrs beobachtet, was darauf hindeutet, dass dieses Gen zu anderen Phänotypen beiträgt, eine Hypothese, die durch die mit WS4 gelegentlich einhergehenden Hörstörungen und Schwerhörigkeit gestützt wird.
 Manchmal resultieren also mehrere mit einer Störung verbundene Merkmale aus einem einzelnen pleiotropen Gen.

Lango Allen, Hana, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, et al. "Hunderte von Varianten, die in genomischen Loci und biologischen Signalwegen geclustert sind, beeinflussen die menschliche Größe." Nature 467, Nr. 7317 (14. Oktober 2010): 832–38. [<a href="https://doi.org/10.1038/nature09410" target="__blank">Quelle</a>]

Mendenhall, Gordon, Thomas Mertens und Jon Hendrix. "Fingerprint Ridge Count: Ein polygenes Merkmal, das im Unterricht nützlich ist." The American Biology Teacher 51, Nr. 4 (1. April 1989): 203–7. [<a href="https://doi.org/10.2307/4448904" target="__blank">Quelle</a>]

pleotropie

Die Pleiotropie ist das Phänomen, bei dem ein einzelnes Gen mehrere, scheinbar nicht verwandte phänotypische Merkmale beeinflusst. Zum Beispiel verursachen Defekte im SOX10 Gen das Waardenburg-Syndrom Typ 4 oder WS4. Dieses verursacht Pigmentstörungen, Hörschäden und fehlende, für die Verdauung notwendige, Darmkontraktionen. Diese Vielfalt an Phänotypen resultiert aus dem Expressionsmuster von SOX10 in der frühen embryonalen und fötalen Entwicklung. SOX10 wird in Neuralleistenzellen gefunden, die Melanozyten bilden und an der Pigmentierung sowie der frühen Entwicklung des Ohres beteiligt sind. SOX10 wird auch im Nervengewebe exprimiert, das schließlich die Bildung des enterischen Nervensystem im Darm beeinflusst. Dieses steuert im Normalfall die für die Ausscheidung von Abfallstoffen notwendigen Kontraktionen. Auf diese Weise hat SOX10 eine pleiotrope Wirkung, da es mehrere Phänotypen beeinflusst.
 
 <h4>Pleiotrope Effekte von SOX10</h4>
 
 Pleiotropie kann durch mehrere Mechanismen entstehen. Gen-Pleiotropie tritt auf, wenn ein Gen verschiedene Funktionen besitzt, da es für ein Produkt kodiert, das mit mehreren Proteinen interagiert oder mehrere Reaktionen katalysiert. So kann beim Menschen eine abnormale Kopie des SOX10 Gens, bei der eine Region fehlt, zu Entwicklungsdefekten führen. Symptome wie weiße Stirnlappen, verschiedenfarbige Iris (z.B. eine blaue und eine braune) und Regionen nicht pigmentierter Haut werden hervorgerufen. Diese Merkmale sind allesamt Symptome einer Erkrankung namens Waardenburg-Syndrom Typ 4 oder WS4. Es handelt sich um eine autosomal rezessive Erkrankung, die zu mehreren Pigmentstörungen führt. Die pleiotropen Effekte von SOX10 in WS4 erstrecken sich auf zusätzliche Symptome, die scheinbar nicht mit der Pigmentierung zusammenhängen. Dazu gehören z.B. Beeinträchtigungen des Hörvermögens. Personen mit WS4 leiden auch unter einem Mangel an Darmkontraktionen, was zu einem vergrößerten Dickdarm und Schwierigkeiten bei der Ausscheidung von Abfallstoffen führt. Diese Symptome deuten darauf hin, dass neben der Beeinträchtigung der Pigmentierung SOX10 auch das Gehör beeinträchtigt und zu einem abnormalen Darmphänotyp beiträgt.
 
 <h4>Expressionsmuster in der frühen Entwicklung</h4>
 
 Die Fähigkeit von SOX10 , seine pleiotropen Effekte auszuüben, kann durch seine Expression in der frühen embryonalen und fötalen Entwicklung erklärt werden. Während dieser Phase wird es in den Neuralleistenzellen gefunden, welche schließlich zur Bildung der Pigmentzellen, den Melanozyten, führen. Neben der Pigmentierung beeinflussen die Melanozyten das Gehör, da sie ebenfalls im sich entwickelnden Ohr vorkommen. SOX10 wird auch in Ganglienzellen des terminalen Hinterdarms exprimiert. Sie tragen zur Bildung des Gastrointestinaltrakts bei und steuern Darmkontraktionen. Dies erklärt die Ausscheidungsprobleme und vergrößerte Dickdärme bei einigen WS4-Betroffenen. Daher ist SOX10 ein Beispiel für ein pleiotropes Gen, da es sich auf mehrere Entwicklungsprozesse auswirkt und mehrere phänotypische Merkmale beeinflusst.

Pleotropie

Pleiotropie ist das Phänomen, bei dem ein einzelnes Gen mehrere scheinbar unzusammenhängende phänotypische Merkmale beeinflusst. Zum Beispiel verursachen Defekte im SOX10-Gen ...

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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

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monohybrid crosses

Mendel’s Pea Plant Inheritance Ratios

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dihybrid crosses

Mendel's Law of Independent Assortment

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law of segregation

Mendel’s Pea Cross Ratios

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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

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Polygenic Traits in Human Height

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Reading Family Traits in Pedigrees

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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

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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...

non-nuclear inheritance

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...

chromosomal theory of inheritance

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...

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

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SOX10 and Multiple Traits in Pleiotropy

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