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

K12 Standards

north-carolina-k-12-science-standard-course-of-study

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

- [나레이터] 다면발현이 진행되는 동안 하나의 유전자는몇 가지 독특한 표현형에 영향을 미칩니다.예를 들어, 인간에게 있어 한 부분이 삭제된비정상적인 SOX10 유전자 복제는개개인의 모발 탈색, 다른 색깔의 홍채,피부 무색소증의 원인이 될 수 있습니다.따라서 이 유전자는 모발, 눈, 피부 형질에 영향을 미칠 수 있습니다.이러한 비정상 특징은 바덴부르그증후군 타입4(WS4) 라고 불리는심각한 장애 증상입니다.그러나 WS4 환자의 대장에는 장의 수축을 조절하는신경계 구성 물질이 부족하여 SOX10의 역할은색소침착에 국한되지 않습니다.결과적으로 노폐물 적체와결장 확대는 WS4의 특징입니다.또한 SOX10은 장의 유전적 형질을 결정합니다.중요한 것은,색소세포와 특정 신경조직의 형성 과정에서발견되는 초기 발병의 증상으로 이 유전자 효과를설명할 수 있다는 것입니다.흥미롭게도,SOX10 단백질은 향후귀의 구성 성분에서도 발견되는데이는 이 유전자가 다른 유전적 형질에 기여하청각 장애가 때때로 WS4에서 발현된다는가설을 뒷받침 합니다.때로는 장애와 관련된 여러 가지 특징들이개별적인 다면발현성 유전자에 의해 발생합니다.

Lango Allen, Hana, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, et al. "게놈 유전자좌와 생물학적 경로에 군집된 수백 가지 변이가 인간의 키에 영향을 미친다."Nature 467, no. 7317 (2010년 10월 14일): 832–38. [<a href="https://doi.org/10.1038/nature09410" target="__blank">소스</a>]

Mendenhall, Gordon, Thomas Mertens, and Jon Hendrix. "지문 능선 수: 교실 수업에 유용한 다인자 특성." The American Biology Teacher 51, no. 4 (April 1, 1989): 203–7. [<a href="https://doi.org/10.2307/4448904" target="__blank">출처</a>]

다면발현

다면발현은 단일 유전자(gene)가 관련이 없어 보이는 다수의 표현형(phenotype) 형질(trait)에 영향을 미치는 현상입니다. 예를 들어, SOX10 유전자의 결함은 바르덴부르크증후군 유형 4 (Waardenburg Syndrome Type 4, 줄여서 WS4)를 유발하여 색소침착, 청력장애, 배설에 필요한 장 수축 부재를 유발할 수 있습니다. 이러한 표현형의 다양성(diversity)은 초기 배아(embryonic)와 태아(fetal) 발달에서 SOX10의 발현 패턴에서 비롯합니다. SOX10은 색소형성과 귀의 초기 발달에 관여하는 멜라닌세포(melanocyte)를 형성하는 신경능선세포(neural crest cell)에서 발견됩니다. SOX10은 또한 배설물 제거를 위한 수축을 제어하는 장신경계(enteric nervous system)에 기여하는 신경 조직으로도 발현됩니다. 이러한 방식으로 SOX10은 여러 발현 유형에 영향을 미치기 때문에 다면발현적 효과(pleiotropic effect)를 보입니다.
 
 <h4>SOX10의 다면발현적 효과</h4>
 
 다면발현은 몇 가지 기작을 통해 발생할 수 있습니다. 유전자 다면발현(gene pleiotropy)은 유전자가 여러 단백질과 상호작용하거나 여러 반응을 촉매하는 생성물을 암호화해서 다양한 기능을 가지고 있을 때 발생합니다. 예를 들어, 사람의 경우, 한 영역이 삭제된 SOX10 유전자의 비정상적인 사본은 흰색 앞머리, 다른 색상의 홍채(예: 파란색과 갈색) 및 색소가 없는 피부 부위를 포함하는 발달상의 결함을 가져올 수 있습니다. 이러한 특징들은 모두 바르덴부르크증후군 타입 4(줄여서 WS4)라고 불리는 복수의 색소결핍을 야기하는 상염색체 잠성(autosomal recessive) 질환의 증상입니다 (주: 우성(dominant) 또는 열성(recessive)이라고 표현할 수 있지만 우성/열성은 현성/잠성으로 개선해야 할 표현입니다). WS4에서 SOX10의 다면발현적 효과는 청력 손실과 같이 색소형성과 무관해 보이는 추가 증상으로 확장됩니다. WS4를 가진 사람들은 장 수축 부족으로 인해 대장이 커지고 노폐물을 제거하는 데 어려움을 겪어 고통받습니다. 이와 같은 증상들은 SOX10가 색소형성에 영향을 미치는 것 외에도 청력에 영향을 미치고 비정상적인 장 표현형에 기여한다는 것을 나타냅니다.
 
 <h4>초기 발달 발현 패턴</h4>
 
 SOX10의 다면발현적 효과를 발휘하는 능력은 초기 배아 및 태아 발달 중 SOX10의 발현을 가지고 설명할 수 있습니다. 이 시기에 SOX10는 멜라닌세포로 불리는 색소 세포의 형성을 이끄는 신경능선세포에서 발견됩니다. 색소형성 외에도 멜라닌세포는 발달 중인 귀에서도 발견되기 때문에 청력에 영향을 미칩니다. SOX10은 또한 위장관의 형성과 장 수축 조절에 기여하는 말단 후장의 신경절세포(ganglion cell)에서 발현되고 이는 일부 WS4 환자에게 있는 배설 문제와 커진 대장을 설명합니다. 따라서 SOX10은 여러 발달 과정에 영향을 미치고 여러 표현형 특성에 영향을 미치는 다면발현적 유전자의 한 예입니다.

다발성(Pleiotropy)은 단일 유전자가 겉보기에 관련이 없어 보이는 여러 표현형 형질에 영향을 미치는 현상입니다. 예를 들어, SOX10 유전자의 결함은 ...

Education

교육

JoVE Core

생물학

Genetics

유전학

Classical and Modern Genetics

고전 유전학과 현대 유전학

KEY TERMS AND CONCEPTS

주요 용어 및 개념

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

Pedigrees are family trees used to track how a trait passes through generations. They help scientists and students see whether a trait is dominant or recessive, whether it is autosomal or sex-linked, what genotypes family members may have, and what phenotypes may appear in future generations. For families with a history of inherited disease, this information can be important for family planning. In plants and animals, inheritance is often studied with crosses. Monohybrid crosses can show...

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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Alabama Course of Study Science

Heredity: Inheritance and Variation of Traits

9-12.B.3.11.b

Next Generation Science Standards

High School

Life Science

HS-LS3-1

new-york-state-science-learning-standards

New York State Science Learning Standards

Inheritance and Variation of Traits

HS-LS3-1.

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What is Meiosis?

Meiosis is the process by which diploid cells divide to produce haploid daughter cells. In humans, each diploid cell contains 46 chromosomes, half from ...

Meiosis I

Meiosis II

Meiosis vs. Mitosis

Crossing Over

Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to ...

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This ...

Spermatogenesis

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Oogenesis

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Neurulation

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Use models to explain how DNA is passed from parents to offspring through the processes of meiosis and fertilization in sexual reproduction.

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Genome Size and the Evolution of New Genes

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Types of Genetic Transfer Between Organisms

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The DNA Replication Fork

Lagging Strand Synthesis

The Replisome

Proofreading

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Construct an explanation to summarize how inheritable genetic variations may result from: new genetic combinations in meiosis, mutations during replication, or mutations caused by environmental factors.

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Law of Independent Assortment

Chi-square Analysis

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Pedigree Analysis

Multiple Allele Traits

Incomplete Dominance

Gregor Mendel&#39;s work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid ...

Lethal Alleles

Agouti: A Lethal Allele
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Polygenic Traits

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Background and Environment Affect Phenotype

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Use mathematics and computational thinking to predict the variation and distribution of expressed traits based on: Mendelian inheritance, co-dominance, incomplete dominance, multiple alleles, and sex-linked inheritance.

LS.Bio.7.1

Overview

A pedigree is a diagram displaying a family&#x2019;s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or ...

Probability Laws

Overview

The probability of inheriting a trait can be calculated using the sum and product rules. The sum rule is used to calculate the probability of ...

The Concept of Multiple Allelism

Multiple allelism describes genes that exist in three or more allelic forms. Although diploid organisms, like humans, ...

Analyze and interpret data to explain how polygenic traits result in a wide range of phenotypes.

LS.Bio.7.2

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

Nature and Nurture

Many human characteristics, like height, are shaped by both nature&mdash;in other words, by our genes&mdash;and by nurture, or our environment. For ...

Construct an explanation to summarize how traits result from interactions of genetic factors (multiple genes and/or alleles) and environmental factors.

PCR: The Polymerase Chain Reaction

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Restriction Enzymes

Restriction enzymes are bacterial enzymes used to cut DNA in a sequence-specific manner. To cleave DNA, they bind to specific palindromic sequences called ...

DNA Agarose Gel Electrophoresis

Agarose gel electrophoresis is a laboratory technique commonly used to separate DNA fragments by size. However, it can also be used to isolate and purify ...

dna-isolation-and-restriction-enzyme-analysis

DNA Isolation and Restriction Enzyme Analysis

The revelation of DNA as the hereditary molecule in all organisms has led to enormous scientific and medical breakthroughs and significantly enhanced our ...

Analyze and interpret data to compare DNA samples.

LS.Bio.8.1

Understand genetic mechanisms for variation.

SOX10 and Multiple Traits in Pleiotropy

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