Bovine polledness--an autosomal dominant trait with allelic heterogeneity.
Bovine polledness--an autosomal dominant trait with allelic heterogeneity.
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DOI：
10.1371/journal.pone.0039477
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Krebs S
中科院分区：
文献类型：
--
作者：
Medugorac I;Seichter D;Graf A;Russ I;Blum H;Göpel KH;Rothammer S;Förster M;Krebs S
持久的角是牛科动物物种形成的一个重要特征，其复杂的形态发生发生在出生后短暂的时间内。在现代牛育种系统中，两极分化是非常有利的，但严重的动物福利问题迫切需要解决无角牛生产中的问题，而不是去角。虽然对角形态发生的显性抑制在70多年前就被发现，致病突变在近20年前就被定位，但其分子性质仍然未知。在这里，我们报告了轮询基因座的等位基因异质性。首先，在多品种病例对照设计中，我们将调查的基因座映射到∼381kb的区间。对16个已知轮询基因的父本中扩大的候选区间(547kb)进行有针对性的重新测序，没有发现与轮询状态相关的常见等位基因。在8个阿尔卑斯山和苏格兰起源的公牛中(4个角牛和4个角牛)，我们发现了一个单一的候选突变，即一个复杂的202个碱基插入-缺失事件，它与除荷斯坦-弗里西亚牛以外的各种欧洲牛品种的轮询表型完美关联。对8个Holsteins中相同候选区间的分析确定了5个候选变异，它们分离为260kb的单倍型，也与轮询基因完美关联，而不会重组或干扰202bp的插入-缺失。我们进一步鉴定了后代测试为纯合的公牛，但同时携带202个碱基对的插入-缺失和Friesian单倍型。在大的半随机样本(1261只动物)中，这两个假定的轮询等位基因的基因型分布支持两个独立突变的假说。
The persistent horns are an important trait of speciation for the family Bovidae with complex morphogenesis taking place briefly after birth. The polledness is highly favourable in modern cattle breeding systems but serious animal welfare issues urge for a solution in the production of hornless cattle other than dehorning. Although the dominant inhibition of horn morphogenesis was discovered more than 70 years ago, and the causative mutation was mapped almost 20 years ago, its molecular nature remained unknown. Here, we report allelic heterogeneity of the POLLED locus. First, we mapped the POLLED locus to a ∼381-kb interval in a multi-breed case-control design. Targeted re-sequencing of an enlarged candidate interval (547 kb) in 16 sires with known POLLED genotype did not detect a common allele associated with polled status. In eight sires of Alpine and Scottish origin (four polled versus four horned), we identified a single candidate mutation, a complex 202 bp insertion-deletion event that showed perfect association to the polled phenotype in various European cattle breeds, except Holstein-Friesian. The analysis of the same candidate interval in eight Holsteins identified five candidate variants which segregate as a 260 kb haplotype also perfectly associated with the POLLED gene without recombination or interference with the 202 bp insertion-deletion. We further identified bulls which are progeny tested as homozygous polled but bearing both, 202 bp insertion-deletion and Friesian haplotype. The distribution of genotypes of the two putative POLLED alleles in large semi-random sample (1,261 animals) supports the hypothesis of two independent mutations.
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影响因子：
12.3
作者：
Gentleman RC;Carey VJ;Bates DM;Bolstad B;Dettling M;Dudoit S;Ellis B;Gautier L;Ge Y;Gentry J;Hornik K;Hothorn T;Huber W;Iacus S;Irizarry R;Leisch F;Li C;Maechler M;Rossini AJ;Sawitzki G;Smith C;Smyth G;Tierney L;Yang JY;Zhang J
通讯作者：
Zhang J
影响因子：
3.1
作者：
LONG, CR;GREGORY, KE
通讯作者：
GREGORY, KE
影响因子：
11.8
作者：
Bialek, P;Kern, B;Karsenty, G
通讯作者：
Karsenty, G
DOI：
10.1073/pnas.1932072100
发表时间：
2003-09-30
影响因子：
11.1
作者：
Kent, WJ;Baertsch, R;Haussler, D
通讯作者：
Haussler, D
影响因子：
30.8
作者：
GEORGES, M;DRINKWATER, R;HETZEL, J
通讯作者：
HETZEL, J