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

Heredity- Inheritance and Variation of Traits

LS.Bio.7.3

Pleiotropy

- [Instructor] Durante
la pleiotropía un gen

influye en varios fenotipos únicos.

Por ejemplo, en humanos, una
copia anormal del gen SOX10,

con una región eliminada,
puede causar que los indivisos

puedan tener fleco blanco,
iris de colores diferentes,

y regiones de la piel sin pigmentación.

Así qe este gen puede afectar

los fenotipos de cabello, ojos y piel.

Y estos rasgos atípicos son
síntomas de un desorden mayor

llamado Síndrome de Waardenburg
tipo 4, abreviado como WS4.

Pero, el papel del SOX10 no
se limita a la pigmentación,

ya que al intestino largo
de pacientes con WS4

le faltan componentes del sistema nervioso

qe controlan la contracción intestinal.

Como resultado, bloqueos de
residuos y colon agrandado

son característicos en el WS4.

El SOX10 también moldea
el fenotipo del intestino.

Es importante que su expresión
en el desarrollo temprano

puede explicar los efectos de este gen,

pues su producto forma
células de pigmentación

y ciertos tejidos nerviosos.

Es interesante que la proteína
SOX10 también se observa

en componentes del futuro oído,

sugiriendo que este gen
contribuye con otros fenotipos,

una hipótesis apoyada por
la desigualdad de orejas

y sordera que ocasionalmente
acompaña al WS4.

Así que, a veces varios rasgos
asociados con un desorden

resultan de un gen pleitrópico individual.

Lango Allen, Hana, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, et al. "Cientos de variantes agrupadas en loci genómicos y vías biológicas afectan la altura humana". Nature 467, no. 7317 (14 de octubre de 2010): 832–38. [<a href="https://doi.org/10.1038/nature09410" target="__blank">Fuente</a>]

Mendenhall, Gordon, Thomas Mertens y Jon Hendrix. "Conteo de crestas de huellas dactilares: un rasgo poligénico útil en la instrucción en el aula". The American Biology Teacher 51, no. 4 (1 de abril de 1989): 203-7. [<a href="https://doi.org/10.2307/4448904" target="__blank">Fuente</a>]

pleiotropía

La pleiotropía es el fenómeno en el que un solo gen impacta múltiples rasgos fenotípicos aparentemente no relacionados. Por ejemplo, los defectos en el gen SOX10 causan el síndrome de Waardenburg tipo 4, o WS4, que puede causar defectos en la pigmentación, problemas de audición y ausencia de las contracciones intestinales necesarias para la eliminación. Esta diversidad de fenotipos resulta del patrón de expresión de SOX10 en el desarrollo embrionario y fetal temprano. SOX10 se encuentra en las células de la cresta neural que forman los melanocitos, que intervienen en la pigmentación y también en el desarrollo temprano del oído. SOX10 también se expresa en el tejido nervioso que eventualmente contribuye al sistema nervioso entérico en el intestino, que controla las contracciones necesarias para la eliminación de desechos. De esta manera, SOX10 exhibe efectos pleiotrópicos, porque influye en múltiples fenotipos. <h4>Efectos pleiotrópicos de SOX10</h4> La pleiotropía puede surgir a través de varios mecanismos. La pleiotropía genética ocurre cuando un gen tiene varias funciones debido a que codifica un producto que interactúa con múltiples proteínas o cataliza múltiples reacciones. Por ejemplo, en humanos, una copia anormal del gen SOX10 , en la que se elimina una región, puede provocar defectos de desarrollo que incluyen un mechón blanco, iris de diferentes colores (p. ej., uno azul y otro marrón) y regiones no pigmentadas. piel. Todos estos rasgos son síntomas de un trastorno llamado síndrome de Waardenburg tipo 4, o WS4, un trastorno autosómico recesivo que provoca múltiples defectos de pigmentación. Los efectos pleiotrópicos de SOX10 en WS4 se extienden hacia síntomas adicionales que aparentemente no están relacionados con la pigmentación, como la pérdida de audición. Las personas con WS4 también sufren de falta de contracciones intestinales, lo que resulta en un colon agrandado y dificultades para eliminar los desechos. Estos síntomas indican que, además de afectar la pigmentación, SOX10 también afecta la audición y contribuye a un fenotipo intestinal anormal. <h4>Patrones de expresión del desarrollo temprano</h4> La capacidad de SOX10 para ejercer sus efectos pleiotrópicos puede explicarse por su expresión en el desarrollo embrionario y fetal temprano, durante el cual se encuentra en las células de la cresta neural que eventualmente conducen a la formación de células pigmentarias llamadas melanocitos. Además de la pigmentación, los melanocitos influyen en la audición, ya que se encuentran en el oído en desarrollo. SOX10 también se expresa en células ganglionares del intestino posterior terminal que contribuyen a la formación del tracto gastrointestinal y controlan las contracciones intestinales. Esto explica los problemas de eliminación y el agrandamiento del colon en algunos individuos con WS4. Por lo tanto, SOX10 es un ejemplo de gen pleiotrópico, porque tiene un impacto en varios procesos de desarrollo e influye en múltiples rasgos fenotípicos.

Pleiotropía

La pleiotropía es el fenómeno en el que un solo gen afecta a múltiples rasgos fenotípicos aparentemente no relacionados. Por ejemplo, los defectos en el gen SOX10 causan ...

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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

Inheritance risk can be calculated with the sum rule and the product rule. The sum rule applies to mutually exclusive events, or events that cannot happen at the same time. The product rule applies to independent events, or events that do not affect one another. These rules describe theoretical probability, which is the chance of an event before it happens. Empirical probability is different because it is based on events that have already occurred. These probability rules are useful in...

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...

polygenic traits

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...

pedigree analysis

Reading Family Traits in Pedigrees

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multiple allele traits

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...

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

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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