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

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North Carolina K-12 Science Standard Course of Study

9-12

Biology

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Heredity- Inheritance and Variation of Traits

LS.Bio.7.3

Pleiotropy

أثناء تعدد النمط الظاهري يؤثر أحد الجينات على العديد من الأنماط الظاهرية الفريدة. فمثلاًفي البشر،قد تتسبب نسخة غير طبيعية من جين سوكس 10"مع حذف حدودها،في أن يكون لدى الأفراد ذؤابة بيضاء،قزحيات بألوان مختلفة،ومناطق من الجلد بلا أصباغ. فيمكن لهذا الجين التأثير على أنماط الشعر والعين والجلد.وهذه الصفات غير النمطية هي أعراض اضطراب أكبر يُسمى متلازمة ووردنبيرغ"من النوع 4،اختصارها دبليو إس 4"ومع ذلك،فإن دور سوكس 10"لا يقتصر على التصبغ،حيث تفتقر الأمعاء الغليظة لمرضى دبليو إس 4"إلى مكونات الجهاز العصبي التي تتحكم في تقلصات الأمعاء. نتيجة لذلك،فإن سدود النفايات والكولونات الموسّعة هي سمة من سمات دبليو إس 4"لذا،يشكّل سوكس 10"النمط الظاهري للأمعاء أيضاًالأهم من ذلك،إن تعبيره أثناء التطور المبكر قد يفسّر تأثيرات هذا الجين،إذ وُجد أن منتوجه يشكّل خلايا الصبغ وأنسجة عصبية معينة. ومن المثير للاهتمام أنه تم ملاحظة بروتين سوكس 10"أيضاًفي مكونات الأذن المستقبلية،مما يوحي إلى أن هذا الجين يساهم في أنماط ظاهرية أخرى،وهي فرضية يدعمها ضعف السمع والصمم المصاحب أحيانًا لـ WS4.والصمم،المصاحبة أحياناًلـ"دبليو إس 4"لذلك،أحياناًتنجم السمات المتعددة المرتبطة بالاضطراب عن جين فردي متعدد العيوب.

لانغو ألين ، هانا ، كارول إسترادا ، غيوم ليتر ، سونيا آي بيرندت ، مايكل ن. ويدون ، فرناندو ريفادينيرا ، كريستين جيه ويلر ، وآخرون "مئات المتغيرات المتجمعة في المواقع الجينومية والمسارات البيولوجية تؤثر على ارتفاع الإنسان". طبيعة سجية 467 ، رقم 7317 (14 أكتوبر 2010): 832-38. [<a href = "https://doi.org/10.1038/nature09410" target = "__blank" >مصدر</a>]

مندنهال ، جوردون ، توماس ميرتنز ، وجون هندريكس. "عدد بصمات الأصابع: سمة متعددة الجينات مفيدة في التدريس في الفصول الدراسية". مدرس الأحياء الأمريكي 51 ، العدد 4 (1 أبريل 1989): 203-7. [<a href = "https://doi.org/10.2307/4448904" target = "__blank" >المصدر</a>]

تعدّد النمط الظاهري

Pleiotropy تعدد الأشكال هي الظاهرة التي يؤثر فيها جين واحد على سمات نمطية متعددة تبدو غير مرتبطة. على سبيل المثال ، تسبب العيوب في الجين SOX10 في متلازمة واردنبورغ من النوع ٤ ، أو WS4 ، و التي يمكن أن تسبب عيوباً في التصبغ ، و ضعف السمع ، و غياب الانقباضات المعوية اللازمة للقضاء عليها. ينتج هذا التنوع في الأنماط الظاهرية عن نمط التعبير عن SOX10 في نمو الجنين المبكر و الجنيني. تم العثور على SOX10 في خلايا القمة العصبية التي تشكل الخلايا الصباغية ، و التي تشارك في تصبغ و أيضا في التنمية المبكرة للأذن. كما يتم التعبير عن SOX10 في الأنسجة العصبية التي تساهم في نهاية المطاف في الجهاز العصبي المعوي في الأمعاء ، و التي تتحكم في الانقباضات اللازمة للقضاء على النفايات. و بهذه الطريقة ، يعرض SOX10 تأثيرات متعددة الاشكال ، لأنه يؤثر على الأنماط الظاهرية المتعددة.

<h4>التأثيرات متعددة الاشكالSOX10</h4>

يمكن أن ينشأ تعدد الأشكال من خلال عدة آليات. يحدث تعدد اشكال الجينات عندما يكون للجين وظائف مختلفة بسبب ترميز منتج يتفاعل مع بروتينات متعددة أو يحفز تفاعلات متعددة. على سبيل المثال ، في البشر ، يمكن أن تؤدي نسخة غير طبيعية من جين SOX10 ، والتي يتم فيها حذف منطقة ، إلى عيوب في النمو تتضمن مقدمة بيضاء وقزحية مختلفة الألوان (على سبيل المثال ، واحدة زرقاء و واحدة البني) ، ومناطق الجلد غير المصطبغة. هذه السمات كلها أعراض لاضطراب يسمى متلازمة واردنبرج من النوع ٤ ، أو WS4 ، وهو اضطراب صبغي جسدي متنحي ينتج عنه عيوب صبغية متعددة. تمتد التأثيرات متعددة الاشكال لـ SOX10 في WS4 الى أعراض إضافية لا علاقة لها على ما يبدو بالتصبغ ، مثل فقدان السمع. يعاني الأفراد المصابون بـ WS4 أيضاً من نقص تقلصات الأمعاء ، مما يؤدي إلى تضخم القولون وصعوبات في التخلص من النفايات. تشير هذه الأعراض إلى أنه بالإضافة إلى التأثير على التصبغ ، يؤثر SOX10 أيضاً على السمع ويساهم في النمط الظاهري للأمعاء غير الطبيعي.

<h4>أنماط التعبير عن التطوير المبكر</h4>

يمكن تفسير قدرة SOX10 على ممارسة آثاره متعددة الاشكال من خلال انتاجه في بداية المراخل المختلفة لنمو الجنين ، والذي يوجد خلاله في خلايا القمة العصبية التي تؤدي في النهاية إلى تكوين خلايا صبغية تسمى الخلايا الصباغية. بالإضافة إلى التصبغ ، تؤثر الخلايا الصباغية على السمع ، حيث توجد في الأذن النامية. يتم التعبير عن SOX10 أيضاً في الخلايا العقدية في المعى الخلفي الطرفي التي تساهم في تكوين القناة الهضمية والتحكم في تقلصات الأمعاء. هذا ما يفسر مشاكل الاخراج وتضخم القولون في بعض أفراد WS4. لذلك ، يعد SOX10 مثالاً على الجين متعدد الأشكال ، لأنه يؤثر على العديد من عمليات النمو ويؤثر على سمات النمط الظاهري المتعددة.

تعدد الأشكال هو الظاهرة التي يؤثر فيها جين واحد على سمات نمطية متعددة تبدو غير مرتبطة. على سبيل المثال ، تسبب العيوب في جين SOX10 ...

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KEY TERMS AND CONCEPTS

المصطلحات والمفاهيم الأساسية

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...

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

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nature and nurture

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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

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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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Heredity: Inheritance and Variation of Traits

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SOX10 and Multiple Traits in Pleiotropy

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