Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae.
Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae.
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DOI：
10.1371/journal.pone.0063512
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Capitan A
中科院分区：
文献类型：
--
作者：
Allais-Bonnet A;Grohs C;Medugorac I;Krebs S;Djari A;Graf A;Fritz S;Seichter D;Baur A;Russ I;Bouet S;Rothammer S;Wahlberg P;Esquerré D;Hoze C;Boussaha M;Weiss B;Thépot D;Fouilloux MN;Rossignol MN;van Marle-Köster E;Hreiðarsdóttir GE;Barbey S;Dozias D;Cobo E;Reversé P;Catros O;Marchand JL;Soulas P;Roy P;Marquant-Leguienne B;Le Bourhis D;Clément L;Salas-Cortes L;Venot E;Pannetier M;Phocas F;Klopp C;Rocha D;Fouchet M;Journaux L;Bernard-Capel C;Ponsart C;Eggen A;Blum H;Gallard Y;Boichard D;Pailhoux E;Capitan A
尽管进行了大量的研究工作，但牛有角的分子病因学和角个体发生涉及的发育途径仍然知之甚少。在最近的一篇文章中，我们提供了证据证明无角基因座上至少存在两个不同的等位基因，并为每个基因确定了候选突变。这些突变都不位于已知的编码或调控区域，因此增加了理解有花性分子基础的复杂性。我们在这里确认了之前的结果，并详尽地确定了凯尔特等位基因（PC）的致病突变和弗里斯兰等位基因（PF）的四个候选突变。我们描述了一种先前未报道的与规则花粉相关的睫毛和眼睑表型，并提供了受三种不同角缺陷综合征影响的胎儿以及野生型对照中牛角芽分化的独特组织学和基因表达数据。我们提出 PC/p 角芽中 lincRNA 的异位表达是角芽发育不全的可能原因。此外，我们提供了 OLIG2、FOXL2 和 RXFP2 参与角芽分化的证据，并在牛、绵羊和山羊无角基因座之间建立了第一个联系。我们的结果代表了了解牛科动物角芽分化的遗传途径和关键过程的第一步，也是重要的一步。
Despite massive research efforts, the molecular etiology of bovine polledness and the developmental pathways involved in horn ontogenesis are still poorly understood. In a recent article, we provided evidence for the existence of at least two different alleles at the Polled locus and identified candidate mutations for each of them. None of these mutations was located in known coding or regulatory regions, thus adding to the complexity of understanding the molecular basis of polledness. We confirm previous results here and exhaustively identify the causative mutation for the Celtic allele (PC) and four candidate mutations for the Friesian allele (PF). We describe a previously unreported eyelash-and-eyelid phenotype associated with regular polledness, and present unique histological and gene expression data on bovine horn bud differentiation in fetuses affected by three different horn defect syndromes, as well as in wild-type controls. We propose the ectopic expression of a lincRNA in PC/p horn buds as a probable cause of horn bud agenesis. In addition, we provide evidence for an involvement of OLIG2, FOXL2 and RXFP2 in horn bud differentiation, and draw a first link between bovine, ovine and caprine Polled loci. Our results represent a first and important step in understanding the genetic pathways and key process involved in horn bud differentiation in Bovidae.
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影响因子：
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作者：
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影响因子：
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作者：
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作者：
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作者：
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DOI：
10.1111/j.1749-6632.2008.03801.x
发表时间：
2009-01-01
期刊：
RELAXIN AND RELATED PEPTIDES: FIFTH INTERNATIONAL CONFERENCE
影响因子：
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作者：
Cooney, Timothy E.;Schober, Justine M.;Konieczko, Elisa M.
通讯作者：
Konieczko, Elisa M.