MFSD12 p. tyr182的常见变异足以改变鼠刺鼠的毛色。

IF 3.9 3区 医学 Q2 CELL BIOLOGY Pigment Cell & Melanoma Research Pub Date : 2023-10-24 DOI:10.1111/pcmr.13144
Dawn E. Watkins-Chow, Arturo A. Incao, Cecelia Rivas, Gene Elliott, Lisa J. Garrett, William J. Pavan
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引用次数: 0

摘要

MFSD12作为半胱氨酸输入黑素体和溶酶体所需的跨膜蛋白发挥作用。MFSD12基因座与非洲、拉丁美洲和东亚人群的肤色表型变异有关。特定MFSD12编码变体rs2240751(MAF = 0.08),据报道与太阳辐射有关,并且在秘鲁发生的频率最高(PEL-MAF = 0.48)和汉族(CHB-MAF = 0.40)群体,这表明它可能是皮肤颜色相关表型变异的原因。我们已经产生了一个小鼠敲除等位基因Mfsd12Y182H,以模拟人类错义p.Tyr182His人类变体。我们证明了变体转录物是稳定表达的,并且变体等位基因纯合的agouti小鼠在毛色改变的情况下是可行的。该体内数据证实MFSD12 p.Tyr182His变体作为足以改变哺乳动物色素沉着的亚形态等位基因发挥作用。
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The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color

MFSD12 functions as a transmembrane protein required for import of cysteine into melanosomes and lysosomes. The MFSD12 locus has been associated with phenotypic variation in skin color across African, Latin American, and East Asian populations. The frequency of a particular MFSD12 coding variant, rs2240751 (MAF = 0.08), has been reported to correlate with solar radiation and occur at highest frequency in Peruvian (PEL MAF = 0.48) and Han Chinese (CHB MAF = 0.40) populations, suggesting it could be causative for associated phenotypic variation in skin color. We have generated a mouse knock-in allele, Mfsd12Y182H, to model the human missense p.Tyr182His human variant. We demonstrate that the variant transcript is stably expressed and that agouti mice homozygote for the variant allele are viable with an altered coat color. This in vivo data confirms that the MFSD12 p.Tyr182His variant functions as a hypomorphic allele sufficient to alter mammalian pigmentation.

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来源期刊
Pigment Cell & Melanoma Research
Pigment Cell & Melanoma Research 医学-皮肤病学
CiteScore
8.90
自引率
2.30%
发文量
54
审稿时长
6-12 weeks
期刊介绍: Pigment Cell & Melanoma Researchpublishes manuscripts on all aspects of pigment cells including development, cell and molecular biology, genetics, diseases of pigment cells including melanoma. Papers that provide insights into the causes and progression of melanoma including the process of metastasis and invasion, proliferation, senescence, apoptosis or gene regulation are especially welcome, as are papers that use the melanocyte system to answer questions of general biological relevance. Papers that are purely descriptive or make only minor advances to our knowledge of pigment cells or melanoma in particular are not suitable for this journal. Keywords Pigment Cell & Melanoma Research, cell biology, melatonin, biochemistry, chemistry, comparative biology, dermatology, developmental biology, genetics, hormones, intracellular signalling, melanoma, molecular biology, ocular and extracutaneous melanin, pharmacology, photobiology, physics, pigmentary disorders
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