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

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Heredity- Inheritance and Variation of Traits

LS.Bio.7.3

Pleiotropy

- [Narratore] Nella
pleiotropia, un gene influenza

diversi fenotipi unici.

Ad esempio, negli umani, una
copia anormale del gene SOX10,

con una regione cancellata, può causare

negli individui un ciuffo bianco,

iridi di diverso colore e aree
della pelle non pigmentate.

Questo gene può influenzare
fenotipi di capelli,

occhi e pelle.

Questi tratti tipici sono
sintomi di un disturbo più ampio

detto sindrome di Waardenburg
tipo 4, abbreviata in WS4.

Tuttavia, il ruolo del
SOX10 non è limitato

alla pigmentazione,

poiché all'intestino crasso
dei pazienti con la WS4

mancano componenti del sistema nervoso

che controllano le
contrazioni intestinali.

Per questo, ostruzioni
intestinali e colon ingrossato

sono caratteristiche della WS4.

Il SOX10 forma anche il
fenotipo dell'intestino.

È importante

che la sua espressione durante
lo sviluppo dei primi anni

potrebbe spiegare gli
effetti di questo gene,

poiché il suo prodotto si
trova nelle cellule pigmentose

in formazione e in certi tessuti nervosi.

È interessante

che la proteina SOX10 si osservi anche

nei componenti del futuro orecchio,

ciò suggerisce che
questo gene contribuisce

ad altri fenotipi,

un'ipotesi supportata da problemi di udito

e sordità che occasionalmente
accompagnano la WS4.

A volte, vari tratti
associati a un disturbo

provengono da un unico gene pleiotropico.

Lango Allen, Hana, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, et al. "Centinaia di varianti raggruppate in loci genomici e percorsi biologici influenzano l'altezza umana". Nature 467, n. 7317 ( 14 ottobre 2010): 832–38. [<a href="https://doi.org/10.1038/nature09410" target="__blank">Sorgente</a>]

Mendenhall, Gordon, Thomas Mertens e Jon Hendrix. "Conteggio delle impronte digitali: un tratto poligenico utile nell'istruzione in classe". The American Biology Teacher 51, n. 4 (1 aprile 1989): 203–7. [<a href="https://doi.org/10.2307/4448904" target="__blank">Sorgente</a>]

pleiotropia

La pleiotropia è il fenomeno in cui un singolo gene ha un impatto su molteplici tratti fenotipici apparentemente non correlati. Ad esempio, i difetti nel gene SOX10 causano la Sindrome di Waardenburg Tipo 4, o WS4, che possono causare difetti nella pigmentazione, disturbi dell'udito e l'assenza di contrazioni intestinali necessarie per l'eliminazione. Questa diversità di fenotipi deriva dal modello di espressione di SOX10 nello sviluppo embrionale e fetale precoce. IL SOX10 si trova nelle cellule della cresta neurale che formano melanociti, che sono coinvolti nella pigmentazione e anche nello sviluppo precoce dell'orecchio. SOX10 è espresso anche nel tessuto nervoso che alla fine contribuisce al sistema nervoso enterico nell'intestino, che controlla le contrazioni necessarie per l'eliminazione dei rifiuti. In questo modo, SOX10 presenta effetti pleiotropici, perché influenza più fenotipi.

<h4>Effetti Pleiotropici di SOX10</h4>

La pleiotropia può sorgere attraverso diversi meccanismi. La pleiotropia genica si verifica quando un gene ha varie funzioni a causa della codifica di un prodotto che interagisce con più proteine o catalizza più reazioni. Ad esempio, nell'uomo, una copia anormale del gene SOX10, in cui una regione viene eliminata, può portare a difetti dello sviluppo che includono un ciglione bianco, iris di colore diverso (ad esempio, un blu e uno marrone) e regioni di pelle non pigmentata. Questi tratti sono tutti sintomi di un disturbo chiamato Sindrome di Waardenburg tipo 4, o WS4, un disturbo recessivo autosomico che si traduce in più difetti del pigmento. Gli effetti pleiotropici di SOX10 in WS4 si estendono verso sintomi aggiuntivi apparentemente non correlati alla pigmentazione, come la perdita dell'udito. Gli individui affetti da WS4 soffrono anche di una mancanza di contrazioni intestinali, con conseguente allargamento del colon e difficoltà ad eliminare gli scarti. Questi sintomi indicano che, oltre a influenzare la pigmentazione, SOX10 influisce anche sull'udito e contribuisce ad un fenotipo intestinale anormale.

<h4>Primi modelli di espressione durante lo sviluppo</h4>

La capacità di SOX10 di esercitare i suoi effetti pleiotropici può essere spiegata dalla sua espressione nello sviluppo embrionale e fetale precoce, durante il quale si trova nelle cellule della cresta neurale che alla fine portano alla formazione di cellule di pigmento chiamate melanociti. Oltre alla pigmentazione, i melanociti influenzano l'udito, come si trovano nell'orecchio in via di sviluppo. SOX10 è espresso anche nelle cellule gangliari del tratto terminale dell'intestino che contribuiscono alla formazione del tratto gastrointestinale e controllano le contrazioni intestinali. Questo spiega i problemi di eliminazione e i due punti allargati in alcuni individui WS4. Pertanto, SOX10 è un esempio di un gene pleiotropico, perché ha un impatto su diversi processi di sviluppo e influenza molteplici tratti fenotipici.

Pleiotropia

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

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...

probability laws

Inheritance Risk with Sum and Product Rules

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test cross

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...

pedigree analysis

Reading Family Traits in Pedigrees

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Polygenic Traits in Human Height

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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...

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...

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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...

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

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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