Chinese white Rongchang pig does not have the dominant white allele of KIT but has the dominant black allele of MCIR
Chinese white Rongchang pig does not have the dominant white allele of KIT but has the dominant black allele of MCIR
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DOI：
10.1093/jhered/esl053
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发表时间：
2007-01-01
影响因子：
3.1
通讯作者：
Huang, Lusheng
中科院分区：
文献类型：
--
作者：
Lai, Fenju;Ren, Jun;Huang, Lusheng
肥大/干细胞生长因子受体（KIT）和黑皮质素受体I（MCIR）突变是家猪毛色表型的原因。荣昌猪是一个具有白色毛色表型的中国地方猪种。为探讨荣昌猪KIT和MCIR基因的遗传变异及其与毛色表型的关系，对93头荣昌猪进行了KIT基因重复和剪接突变的检测。结果表明：荣昌猪KIT基因为单拷贝，内含子17第一个核苷酸没有剪接突变，这表明KIT的显性白色I等位基因不是其白色表型的原因。还测定了该品种的KIT mRNA和MCIR编码序列。在荣昌猪和西方白色猪的KIT基因中发现了3个氨基酸的替换，它们与荣昌白色猪表型的关系尚不清楚。对于MCIR基因，荣昌猪被证明具有与其他中国品种相同的显性黑色等位基因（E-DI），支持了先前中西方猪具有独立驯化起源的结论。我们还阐明了荣昌白色表型对非白色表型是隐性的。本研究结果为荣昌猪白色毛色突变的鉴定提供了良好的基础。
The mast/stem cell growth factor receptor (KIT) and melanocortin receptor I (MCIR) mutations are responsible for coat color phenotypes in domestic pigs. Rongchang is a Chinese indigenous pig breed with a white coat color phenotype. To investigate the genetic variability of the KIT and MCIR genes and their possible association with the coat color phenotype in this breed, a gene duplication and splice mutation of KIT were diagnosed in a sample of 93 unrelated Rongchang animals, The results show that Rongchang pigs have a single copy of KIT without the splice mutation at the first nucleotide of intron 17, indicating that the dominant white I allele of KIT is not responsible for their white phenotype. The KIT mRNA and MCIR coding sequences were also determined in this breed. Three putative amino acid substitutions were found in the KIT gene between Rongchang and Western white pigs, their association with the Rongchang white phenotype remains unknown. For the MCIR gene, Rongchang pigs were demonstrated to have the same dominant black allele (E-DI) as other Chinese breeds, supporting the previous conclusion that Chinese and Western pigs have independent domestication origin. We also clarified that the Rongchang white phenotype was recessive to nonwhite color phenotypes. Our results provide a good starting point for the identification of the mutations underlying the white coat color in Rongchang pigs.