MFSD12 p.Tyr182它的常见变体足以改变小鼠的毛皮颜色
Dawn E Watkins-Chow1, Arturo A Incao1, Cecelia Rivas2
1Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Pigment cell & melanoma research
|October 24, 2023
概括
MFSD12基因影响皮肤颜色的变化. 在小鼠中模拟了一种特定的MFSD12变体 (p.Tyr182His),证实了它在改变哺乳动物色素的作用.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 人体生理学 人体生理学
背景情况:
- MFSD12是一种跨膜蛋白质,对囊素运输到黑色素体和溶酶体至关重要.
- MFSD12的遗传变异与全球人口中人类皮肤颜色的多样性有关.
- 一种特定的MFSD12变体 (rs2240751) 显示了与太阳辐射的频率相关性,特别是在秘鲁和汉族人口中.
研究的目的:
- 为了研究人类MFSD12 p.Tyr182它的变体对哺乳动物色素的功能影响.
- 为了创建和分析人类MFSD12 p.Tyr182他的变体的小鼠模型.
主要方法:
- 产生了一种小鼠敲入等位基因 (Mfsd12Y182H) 来复制人类错误变异.
- 评估了变体转录的表达稳定性.
- 观察到agouti小鼠的表型,对变异性等位基因具有同胞性.
主要成果:
- 在小鼠中,Mfsd12Y182H变体的转录表达稳定.
- 对于Mfsd12Y182H等位基因同胞的小鼠是可行的,并表现出改变的外套颜色.
- 在体内数据证实了MFSD12 p.Tyr182他的变体的低形态性质.
结论:
- 该MFSD12 p.Tyr182他的变体作为一个低形态的等位基因.
- 这种变异足以引起哺乳动物毛皮颜色的变化,为色素变异提供了功能链接.
相关概念视频
01:39Epistasis
46.9K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
46.9K
02:41Lethal Alleles
15.5K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.5K
01:09Epistasis Analysis
5.0K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.0K
02:27Background and Environment Affect Phenotype
6.5K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.5K
01:43Incomplete Dominance
22.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.6K
01:11Genetic Lingo
102.9K
Overview
102.9K