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

- [Instructeur] Tijdens de Pleiotropie beïnvloedt één gen verschillende unieke fenotypes. Bijvoorbeeld bij mensen, een abnormaal exemplaar van het SOX10-gen met een verwijderd gebied, kan ervoor zorgen dat personen een witte voorhoofdslok, irissen met verschillende kleuren, en gebieden van niet-gepigmenteerde huid hebben, dus kan dit gen de haar-, oog- en huidfenotypen beïnvloeden. En deze atypische eigenschappen zijn symptomen van een grotere aandoening Waardenburg-syndroom Type 4 genoemd, afgekort WS4.

De rol van SOX10 is echter niet beperkt tot pigmentatie, omdat de dikke darmen van WS4-patiënten componenten van het zenuwstelsel missen die de darmcontracties regelen. Als gevolg hiervan zijn verstoppingen en een vergrote dikke darm, kenmerkend voor WS4 dus SOX10 vormt ook het darmfenotype. Belangrijk is dat de uitdrukking tijdens de vroege ontwikkeling de effecten van dit gen kan verklaren, omdat het product wordt aangetroffen in het vormen van pigmentcellen en bepaalde zenuwweefsel.

Interessant is dat het SOX10-eiwit ook wordt waargenomen in componenten van het toekomstige oor, wat suggereert dat dit gen bijdraagt aan andere fenotypes, een hypothese ondersteund door de gehoorstoornissen, en doofheid die af en toe gepaard gaat met WS4. Dus soms resulteren meerdere kenmerken geassocieerd met de stoornis vanuit een individueel pleiotroop gen.

pleiotropie

Pleiotropie is het fenomeen waarbij een enkel gen invloed heeft op meerdere, schijnbaar niet-gerelateerde fenotypische eigenschappen. Defecten in het SOX10-gen veroorzaken bijvoorbeeld het Waardenburgsyndroom Type 4 (WS4), wat defecten in de pigmentatie, gehoorstoornissen en het ontbreken van darmsamentrekkingen kan veroorzaken die nodig zijn voor eliminatie. Deze diversiteit aan fenotypes is het resultaat van het expressiepatroon van SOX10 in de vroege embryonale en foetale ontwikkeling. SOX10 wordt aangetroffen in cellen van de neurale lijst die melanocyten vormen, die betrokken zijn bij pigmentatie en ook bij de vroege ontwikkeling van het oor. SOX10 komt ook tot expressie in zenuwweefsel dat uiteindelijk bijdraagt aan het enterische zenuwstelsel in de darmen, dat de samentrekkingen regelt die nodig zijn voor de eliminatie van afvalstoffen. Op deze manier vertoont SOX10 pleiotrope effecten, omdat het meerdere fenotypes beïnvloedt.

<h4>Pleiotrope effecten van SOX10</h4>

Pleiotropie kan via verschillende mechanismen ontstaan. Genpleiotropie treedt op wanneer een gen verschillende functies heeft, doordat het codeert voor een product dat interageert met meerdere eiwitten of meerdere reacties katalyseert. Bij mensen kan een abnormale kopie van het SOX10-gen, waarin een regio is verwijderd, bijvoorbeeld leiden tot ontwikkelingsstoornissen, waaronder een witte spie, irissen met verschillende kleuren (bijvoorbeeld één blauwe en één bruine) en gebieden met niet-gepigmenteerde huid. Deze kenmerken zijn allemaal symptomen van een aandoening die het Waardenburgsyndroom Type 4 (WS4) wordt genoemd, een autosomaal recessieve aandoening die resulteert in meerdere pigmentdefecten. De pleiotrope effecten van SOX10 in WS4 strekken zich uit tot aanvullende symptomen die schijnbaar geen relatie houden met pigmentatie, zoals gehoorverlies. Individuen met WS4 lijden ook aan een gebrek aan darmcontracties, wat resulteert in een vergrote dikke darm en moeilijkheden bij het elimineren van afval. Deze symptomen geven aan dat SOX10 niet alleen de pigmentatie beïnvloedt, maar ook het gehoor beïnvloedt en bijdraagt aan een abnormaal darmfenotype.

<h4>Expressiepatronen voor vroege ontwikkeling</h4>

Het vermogen van SOX10 om zijn pleiotrope effecten uit te oefenen kan worden verklaard door de expressie ervan in de vroege embryonale en foetale ontwikkeling, waarbij het wordt aangetroffen in cellen van de neurale lijst die uiteindelijk leiden tot de vorming van pigmentcellen die melanocyten worden genoemd. Naast pigmentatie beïnvloeden melanocyten het gehoor, omdat ze in het zich ontwikkelende oor worden aangetroffen. SOX10 wordt ook tot expressie gebracht in ganglioncellen van de terminale dikke darm, die bijdraagt aan de vorming van het maagdarmkanaal en de darmcontracties controleren. Dit verklaart de eliminatieproblemen en vergrote dikke darm bij sommige WS4-individuen. Daarom is SOX10 een voorbeeld van een pleiotroop gen, omdat het impact heeft op verschillende ontwikkelingsprocessen en meerdere fenotypische kenmerken beïnvloedt.

Pleiotropie

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

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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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Using Test Crosses to Identify Genotypes

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Reading Family Traits in Pedigrees

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polygenic traits

Polygenic Traits in Human Height

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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

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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Alabama Course of Study Science

Heredity: Inheritance and Variation of Traits

9-12.B.3.11.b

Next Generation Science Standards

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Life Science

HS-LS3-1

new-york-state-science-learning-standards

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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