PDSS2的顺式调控突变导致鸡出现丝羽性状。
A cis-regulatory mutation of PDSS2 causes silky-feather in chickens.
作者信息
Feng Chungang, Gao Yu, Dorshorst Ben, Song Chi, Gu Xiaorong, Li Qingyuan, Li Jinxiu, Liu Tongxin, Rubin Carl-Johan, Zhao Yiqiang, Wang Yanqiang, Fei Jing, Li Huifang, Chen Kuanwei, Qu Hao, Shu Dingming, Ashwell Chris, Da Yang, Andersson Leif, Hu Xiaoxiang, Li Ning
机构信息
State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China; College of Animal Science and Technology, China Agricultural University, Beijing, China.
State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China.
出版信息
PLoS Genet. 2014 Aug 28;10(8):e1004576. doi: 10.1371/journal.pgen.1004576. eCollection 2014 Aug.
Silky-feather has been selected and fixed in some breeds due to its unique appearance. This phenotype is caused by a single recessive gene (hookless, h). Here we map the silky-feather locus to chromosome 3 by linkage analysis and subsequently fine-map it to an 18.9 kb interval using the identical by descent (IBD) method. Further analysis reveals that a C to G transversion located upstream of the prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2) gene is causing silky-feather. All silky-feather birds are homozygous for the G allele. The silky-feather mutation significantly decreases the expression of PDSS2 during feather development in vivo. Consistent with the regulatory effect, the C to G transversion is shown to remarkably reduce PDSS2 promoter activity in vitro. We report a new example of feather structure variation associated with a spontaneous mutation and provide new insight into the PDSS2 function.
由于其独特的外观，丝羽性状已在一些品种中被选育并固定下来。这种表型由一个单隐性基因（无钩，h）引起。在这里，我们通过连锁分析将丝羽基因座定位到3号染色体上，随后使用同源一致（IBD）方法将其精细定位到一个18.9 kb的区间。进一步分析表明，位于异戊二烯基（癸异戊二烯基）二磷酸合酶亚基2（PDSS2）基因上游的一个C到G的颠换导致了丝羽性状。所有丝羽鸟均为G等位基因的纯合子。丝羽突变在体内羽毛发育过程中显著降低了PDSS2的表达。与这种调控作用一致，C到G的颠换在体外显著降低了PDSS2启动子活性。我们报道了一个与自发突变相关的羽毛结构变异的新例子，并为PDSS2的功能提供了新的见解。
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