Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
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DOI：
10.1371/journal.pone.0094861
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Drögemüller C
中科院分区：
文献类型：
--
作者：
Murgiano L;Jagannathan V;Benazzi C;Bolcato M;Brunetti B;Muscatello LV;Dittmer K;Piffer C;Gentile A;Drögemüller C
2013 年夏天，七头意大利蒂罗尔灰牛犊出生，四肢异常短小。详细的临床和病理检查显示与软骨发育不良性侏儒症相似。谱系分析显示有一个共同的创始人，假设缺陷等位基因是常染色体单基因隐性遗传。结合全基因组关联和纯合性作图的定位克隆方法鉴定了 BTA 6 上与该疾病相关的单个 1.6 Mb 基因组区域。对受影响小牛的全基因组重新测序揭示了 Ellis van Creveld 综合征 2 (EVC2) 基因中的单个候选因果突变。已知该基因与日本褐牛的软骨发育不良侏儒症以及埃利斯-范克雷维尔德综合征人类的侏儒症、指甲和牙齿异常以及骨发育不全有关。桑格测序证实外显子 19 (c.2993_2994ACdel) 中存在 2 bp 缺失，导致牛 EVC2 编码序列中出现过早终止密码子，并且与受影响动物和携带者动物的隐性遗传模式一致。这种功能丧失突变证实了EVC2在骨骼发育中的重要作用。现在可以使用基因检测来消除蒂罗尔灰牛的这种软骨发育不良侏儒症。
During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle.
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影响因子：
1.9
作者：
D'Asdia, Maria Cecilia;Torrente, Isabella;De Luca, Alessandro
通讯作者：
De Luca, Alessandro
影响因子：
1.2
作者：
Cingolani, Pablo;Platts, Adrian;Ruden, Douglas M.
通讯作者：
Ruden, Douglas M.
影响因子：
3.8
作者：
Galdzicka, M;Patnala, S;Ginns, EI
通讯作者：
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影响因子：
2.1
作者：
McCormack, B. L.;Chase, C. C., Jr.;Lucy, M. C.
通讯作者：
Lucy, M. C.
DOI：
10.1016/s1028-4559(10)60101-5
发表时间：
2010-12-01
影响因子：
2.1
作者：
Chen, Chih-Ping;Su, Yi-Ning;Wang, Wayseen
通讯作者：
Wang, Wayseen