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

במהלך פליוטרופיה, גן אחד משפיע על מספר פנוטיפים ייחודיים. לדוגמה, בבני אדם, עותק לא נורמלי של הגן SOX10, עם אזור מחוק, עלול לגרום לאנשים להיות עם בלורית לבנה, צבעי איריס צבעוניים שונים ואזורי עור לא צבועים. לכן, הגן הזה יכול להשפיע על שיער, עיניים, פנוטיפים העור, ותכונות לא טיפוסיות אלה הן סימפטומים של הפרעה גדולה יותר, הנקראת Waardenburg Syndrome Type 4, בקיצור WS4, עם זאת, תפקידו של SOX10 אינו מוגבל פיגמנטציה, כמו מעיים גדולים של חולים WS4 חוסר מרכיבים של מערכת העצבים ששולטים על התכווצויות מעיים.כתוצאה מכך, פסולת וקולונים מוגדלים הם אופייניים של WS4. אז, SOX10 גם צורות פנוטיפ המעי הרגיז. חשוב לציין, זה ביטוי במהלך הפיתוח המוקדם עשוי להסביר את ההשפעות של הגן הזה, כמו המוצר שלה שנמצא ביצירת תאי פיגמנט, ורקמת עצב מסוימים.מעניין, חלבון SOX10 הוא מצויין גם במרכיבי האוזן העתידית, מה שמרמז כי הגן הזה תורם לפנוטיפים אחרים, היפותזה הנתמכת על ידי ליקויים בשמיעה ואת חירשות מדי פעם מלווה WS4. לכן, לפעמים תכונות מרובות הקשורות להפרעה ותוצאה של הגן הפליאוטרופי האישי.

Lango Allen, Hana, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, et al. "מאות וריאנטים מקובצים באתרים גנומיים ומסלולים ביולוגיים משפיעים על גובה האדם." טבע 467, מס '7317 (14 באוקטובר 2010): 832–38. [<a href="https://doi.org/10.1038/nature09410" target="__blank">מקור</a>]

מנדנהול, גורדון, תומאס מרטנס וג'ון הנדריקס. "ספירת רכס טביעות אצבע: תכונה פוליגנית שימושית בהוראה בכיתה." המורה האמריקאי לביולוגיה 51, מס' 4 (1 באפריל 1989): 203-7. [<a href="https://doi.org/10.2307/4448904" target="__blank">מקור</a>]

פליאוטרופיה

<div style="direction:rtl">פליאוטרופיה היא התופעה שבה גן בודד משפיע על תכונות פנוטיפיות מרובות, לכאורה לא קשורות. לדוגמה, פגמים בגן SOX10 גורמים לתסמונת Waardenburg Type 4, או WS4, שעלולים לגרום לפגמים בפיגמנטציה, ליקויי שמיעה והיעדר התכווצויות מעיים הנחוצות לסילוק. מגוון זה של פנוטיפים נובע מדפוס הביטוי של SOX10 בהתפתחות העוברית והעוברית המוקדמת. SOX10 נמצא בתאי ציצה עצביים היוצרים מלנוציטים, המעורבים בפיגמנטציה וגם בהתפתחות המוקדמת של האוזן. SOX10 מתבטא גם ברקמת עצב שתורמת בסופו של דבר למערכת העצבים האנטרית במעיים, השולטת על ההתכווצויות הנחוצות לסילוק הפסולת. בדרך זו, SOX10 מציג השפעות פליאוטרופיות, מכיוון שהוא משפיע על פנוטיפים מרובים. <h4>השפעות פליאוטרופיות של SOX10</h4> פליאוטרופיה יכולה להתעורר באמצעות מספר מנגנונים. פליאוטרופיה גנטית מתרחשת כאשר לגן יש פונקציות שונות עקב קידוד מוצר המקיים אינטראקציה עם חלבונים מרובים או מזרז תגובות מרובות. לדוגמה, בבני אדם, עותק לא תקין של הגן SOX10, שבו אזור נמחק, יכול להוביל לפגמים התפתחותיים הכוללים מנעול לבן, קשתיות בצבעים שונים (למשל, אחת כחולה ואחת חומה), ואזורים ללא פיגמנטציה. תכונות אלו הן כולן תסמינים של הפרעה הנקראת תסמונת ורדנבורג Type 4, או WS4, הפרעה אוטוזומלית רצסיבית שגורמת לליקויים מרבים בפיגמנט. ההשפעות הפליוטרופיות של SOX10 ב-WS4 מתרחבות לעבר תסמינים נוספים שלכאורה אינם קשורים לפיגמנטציה, כגון אובדן שמיעה. אנשים עם WS4 סובלים גם מחוסר התכווצויות מעיים, וכתוצאה מכך מוגדל המעי הגס וקשיים בסילוק הפסולת. תסמינים אלו מצביעים על כך שבנוסף להשפעה על הפיגמנטציה, SOX10 משפיע גם על השמיעה ותורם לפנוטיפ לא תקין של המעי. <h4>דפוסי ביטוי התפתחותיים מוקדמים</h4> יכולתו של SOX10 להפעיל את ההשפעות הפליוטרופיות שלו עשויה להיות מוסברת על ידי ביטויו בהתפתחות העוברית והעוברית המוקדמת, במהלכה הוא נמצא בתאי ציצה עצביים המובילים בסופו של דבר ליצירת תאי פיגמנט הנקראים מלנוציטים. בנוסף לפיגמנטציה, המלנוציטים משפיעים על השמיעה, שכן הם נמצאים באוזן המתפתחת. SOX10 מתבטא גם בתאי גנגליון של המעי האחורי הסופי התורמים להיווצרות מערכת העיכול ובקרה על התכווצויות המעיים. זה מסביר את בעיות הסילוק ואת המעי הגס המוגדלים בחלק מיחידי WS4. לכן, SOX10 הוא דוגמה לגן פליאוטרופי, מכיוון שיש לו השפעה על מספר תהליכי התפתחות ומשפיע על תכונות פנוטיפיות מרובות.</div>

פליוטרופיה היא תופעה שבה גן יחיד משפיע על תכונות פנוטיפיות מרובות, לכאורה לא קשורות. לדוגמה, פגמים בגן SOX10 גורמים ...

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KEY TERMS AND CONCEPTS

מונחים ומושגים מרכזיים

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

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New York State Science Learning Standards

Inheritance and Variation of Traits

HS-LS3-1.

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SOX10 and Multiple Traits in Pleiotropy

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