Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
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DOI：
10.1371/journal.pgen.0030195
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发表时间：
2007-11
期刊：
影响因子：
4.5
通讯作者：
Leeb T
中科院分区：
文献类型：
--
作者：
Haase B;Brooks SA;Schlumbaum A;Azor PJ;Bailey E;Alaeddine F;Mevissen M;Burger D;Poncet PA;Rieder S;Leeb T
至少2000年来，白色一直是马的一种非常重要的特征。显性白色(W)是已知的几种马的脱色表型之一。它表现出相当大的表型变化，从∼50%的脱色区到完全白色的被毛。在马身上，四种脱色表型Roan、Sabino、Tobiano和显性白色被独立地定位到Eca 3上含有KIT基因的染色体区域。KIT在胚胎发育过程中对黑素母细胞的存活起着重要作用。我们测定了∼82kb马KIT基因的序列和基因组结构。对白法郎-蒙塔格斯马的所有21个KIT外显子的突变分析显示，外显子15(c.2151C>；G，p.Y717X)存在无义突变。我们分析了来自其他群体的以白人为主的马的KIT外显子，发现了另外三个候选致病突变。三名几乎完全是白人的阿拉伯人携带了不同的外显子4的无义突变(c.706A>；T，p.K236X)。6匹Camarillo白马存在外显子12的错义突变(c.1805C>；T，p.A602V)，5匹白色纯种马存在外显子13的错义突变(c.1960G>；A，p.G654R)。我们的结果表明，弗朗西斯-蒙塔涅马的显性白色是由KIT基因的无义突变引起的，该基因内的多个独立突变似乎是导致其他几个现代马群中的显性白色的原因。白马一直受到人类主人的高度重视。它们在历史上的重要作用体现在它们被广泛用作纹章动物(例如，在德国下萨克森州和北莱茵-威斯特伐利亚州的旗帜上)。在瑞士法郎-蒙塔格内斯的马种群中，一匹名为Cigale的全白母马于1957年出生于纯褐色的父母。白色表型是作为常染色体显性性状遗传的，所有现存的白色乳房马-蒙塔格马都是雪茄的后代。我们对白色和纯色的蒙塔格马的KIT基因进行了测序，发现了一种突变，该突变会使基因产物失活，从而导致白马皮肤中缺乏色素形成细胞。然后，我们分析了来自其他种群的白马，并在白种纯种马、阿拉伯人和卡马里洛白马中发现了另外三个独立的候选致病突变。因此，这项研究揭示了导致不同马群白色毛色的独立突变事件。我们的发现将有助于进行基因测试，并对白毛马进行更准确的分类。
White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses. It shows considerable phenotypic variation, ranging from ∼50% depigmented areas up to a completely white coat. In the horse, the four depigmentation phenotypes roan, sabino, tobiano, and dominant white were independently mapped to a chromosomal region on ECA 3 harboring the KIT gene. KIT plays an important role in melanoblast survival during embryonic development. We determined the sequence and genomic organization of the ∼82 kb equine KIT gene. A mutation analysis of all 21 KIT exons in white Franches-Montagnes Horses revealed a nonsense mutation in exon 15 (c.2151C>G, p.Y717X). We analyzed the KIT exons in horses characterized as dominant white from other populations and found three additional candidate causative mutations. Three almost completely white Arabians carried a different nonsense mutation in exon 4 (c.706A>T, p.K236X). Six Camarillo White Horses had a missense mutation in exon 12 (c.1805C>T, p.A602V), and five white Thoroughbreds had yet another missense mutation in exon 13 (c.1960G>A, p.G654R). Our results indicate that the dominant white color in Franches-Montagnes Horses is caused by a nonsense mutation in the KIT gene and that multiple independent mutations within this gene appear to be responsible for dominant white in several other modern horse populations. White horses have always been highly valued by their human owners. Their important role in history is reflected by their widespread use as heraldic animals (e.g., on the flags of the German states of Lower Saxony and North Rhine-Westphalia). In the Swiss Franches-Montagnes Horse population, a completely white mare named Cigale was born out of solid brown parents in 1957. The white phenotype is inherited as an autosomal dominant trait and all living white Franches-Montagnes Horses are descendants of Cigale. We sequenced the KIT gene in white and solid-colored Franches-Montagnes Horses and found a mutation that inactivates the gene product and thus leads to a lack of pigment-forming cells in the skin of white horses. We then analyzed white horses from other populations and found three additional independent candidate causative mutations in white Thoroughbreds, Arabians, and Camarillo White Horses. The research thus revealed independent mutation events leading to white coat color in different horse populations. Our findings will allow genetic testing and a more precise classification of horses with white coat color.
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影响因子：
2.5
作者：
Brooks, SA;Bailey, E
通讯作者：
Bailey, E
影响因子：
4.4
作者：
Leeb, T;Vogl, C;Blöcker, H
通讯作者：
Blöcker, H
DOI：
10.1073/pnas.88.19.8696
发表时间：
1991-10-01
影响因子：
11.1
作者：
GIEBEL, LB;SPRITZ, RA
通讯作者：
SPRITZ, RA
影响因子：
1.5
作者：
Sturtevant, AH
通讯作者：
Sturtevant, AH
影响因子：
15.9
作者：
FURITSU, T;TSUJIMURA, T;KANAKURA, Y
通讯作者：
KANAKURA, Y