A missense mutation in PMEL17 is associated with the Silver coat color in the horse.
A missense mutation in PMEL17 is associated with the Silver coat color in the horse.
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DOI：
10.1186/1471-2156-7-46
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发表时间：
2006-10-09
期刊：
影响因子：
2.9
通讯作者：
Lindgren G
中科院分区：
文献类型：
--
作者：
Brunberg E;Andersson L;Cothran G;Sandberg K;Mikko S;Lindgren G
马的银色被毛，也称为银斑点，其特征是毛发中的黑色色素被稀释。该表型为常染色体显性遗传。突变的影响在马内和尾巴的长毛中最为明显，它们被稀释成白色和灰色的混合物。在这里，我们描述了鉴定的责任基因和错义突变与银表型。在一个半同胞家系中获得了银基因座（Z）的分离数据，该家系由一匹杂合银色种马（34个后代）和29匹非银色母马组成。我们对分布在马基因组中的41个遗传标记进行了分型，其中包括一个靠近马6号染色体（ECA 6 q23）上候选基因PMEL 17的微卫星标记（TKY 284）。在银表型和TKY 284之间发现了显著的连锁（θ = 0，z = 9.0）。银马和非银马的PMEL 17的DNA测序显示外显子11中的错义突变，将胞质区域中的第二个氨基酸从精氨酸改变为半胱氨酸（Arg 618 Cys）。该突变在多个马品种中显示与银表型完全相关，并且在非银马中未发现，但有一个明显的例外;当与不同的非银种马交配时，具有几个银后代的栗色个体也携带外显子11突变。总共检测了来自6个品种的64匹银马和来自14个品种的85匹非银马的外显子11突变。位于内含子9的一个额外突变，距离错义突变仅759个碱基，也显示与银表型完全相关。然而，由于人们可以期望找到几个与银突变完全相关的非致病性突变，我们认为错义突变更可能是致病性的。目前的研究表明，PMEL 17导致马的银毛色，并使该性状的基因检测成为可能。
The Silver coat color, also called Silver dapple, in the horse is characterized by dilution of the black pigment in the hair. This phenotype shows an autosomal dominant inheritance. The effect of the mutation is most visible in the long hairs of the mane and tail, which are diluted to a mixture of white and gray hairs. Herein we describe the identification of the responsible gene and a missense mutation associated with the Silver phenotype. Segregation data on the Silver locus (Z) were obtained within one half-sib family that consisted of a heterozygous Silver colored stallion with 34 offspring and their 29 non-Silver dams. We typed 41 genetic markers well spread over the horse genome, including one single microsatellite marker (TKY284) close to the candidate gene PMEL17 on horse chromosome 6 (ECA6q23). Significant linkage was found between the Silver phenotype and TKY284 (θ = 0, z = 9.0). DNA sequencing of PMEL17 in Silver and non-Silver horses revealed a missense mutation in exon 11 changing the second amino acid in the cytoplasmic region from arginine to cysteine (Arg618Cys). This mutation showed complete association with the Silver phenotype across multiple horse breeds, and was not found among non-Silver horses with one clear exception; a chestnut colored individual that had several Silver offspring when mated to different non-Silver stallions also carried the exon 11 mutation. In total, 64 Silver horses from six breeds and 85 non-Silver horses from 14 breeds were tested for the exon 11 mutation. One additional mutation located in intron 9, only 759 bases from the missense mutation, also showed complete association with the Silver phenotype. However, as one could expect to find several non-causative mutations completely associated with the Silver mutation, we argue that the missense mutation is more likely to be causative. The present study shows that PMEL17 causes the Silver coat color in the horse and enable genetic testing for this trait.
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影响因子：
3.1
作者：
Ewart, SL;Ramsey, DT;Meyers, D
通讯作者：
Meyers, D
影响因子：
9.8
作者：
Fowler DM;Koulov AV;Alory-Jost C;Marks MS;Balch WE;Kelly JW
通讯作者：
Kelly JW
DOI：
10.1073/pnas.0506940103
发表时间：
2006-01-31
影响因子：
11.1
作者：
Clark, LA;Wahl, JM;Murphy, KE
通讯作者：
Murphy, KE
DOI：
10.1111/j.1439-0388.2000x.00245.x
发表时间：
2000-04-01
期刊：
JOURNAL OF ANIMAL BREEDING AND GENETICS-ZEITSCHRIFT FUR TIERZUCHTUNG UND ZUCHTUNGSBIOLOGIE
影响因子：
--
作者：
Rieder, S;Stricker, C;Stranzinger, G
通讯作者：
Stranzinger, G
影响因子：
2.7
作者：
Schonthaler, HB;Lampert, JM;Neuhauss, SCF
通讯作者：
Neuhauss, SCF