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Sci Rep:北京大学罗述金研究组揭示影响猫尾长短基因

摘要 : 2016年8月25日,国际学术权威刊物自然出版集团旗下子刊《Scientific Reports》杂志在线发表了北京大学生命科学学院罗述金研究员题为“Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats”的研究论文,论文报道了研究人员找到了影响猫尾巴长短的基因。

 2016年8月25日,国际学术权威刊物自然出版集团旗下子刊《Scientific Reports》杂志在线发表了北京大学生命科学学院罗述金研究员题为“Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats”的研究论文,论文报道了研究人员找到了影响猫尾巴长短的基因

研究识别出了日本短尾猫和中国短尾野化猫短尾的遗传基础。这项研究发现,HES7基因的一种变异是上述品种出现这一性状的原因。 此前的研究已经发现,马恩岛猫和几种短尾猫的短尾/无尾性状来自T-box基因的一种变异。然而,这种基因已被证明与日本短尾猫的短尾性状无关,这说明至少还有一种基因在决定家猫的尾巴长短中发挥了作用。 罗述金及同事对两代13只猫进行了遗传分析,并在另外233只没有亲缘关系的猫(其中包括126只来自亚洲的野化猫和107只家猫)中筛选了与尾长有关的遗传变异。作者发现,HES7基因拷贝数为1,且发生缬氨酸替换为丙氨酸这一变异的猫在不同程度上表现出了短尾性状,从尾巴稍短(约25厘米长)到尾长10-20厘米不等。他们还发现,来自中国的短尾猫中,有大约三分之一并不携带与短尾有关的HES7或T-box基因变异,这说明在中国的短尾猫中,或许还存在其他导致短尾的基因。

原文链接:

Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats

原文摘要:

Domestic cats exhibit abundant variations in tail morphology and serve as an excellent model to study the development and evolution of vertebrate tails. Cats with shortened and kinked tails were first recorded in the Malayan archipelago by Charles Darwin in 1868 and remain quite common today in Southeast and East Asia. To elucidate the genetic basis of short tails in Asian cats, we built a pedigree of 13 cats segregating at the trait with a founder from southern China and performed linkage mapping based on whole genome sequencing data from the pedigree. The short-tailed trait was mapped to a 5.6 Mb region of Chr E1, within which the substitution c. 5T > C in the somite segmentation-related gene HES7 was identified as the causal mutation resulting in a missense change (p.V2A). Validation in 245 unrelated cats confirmed the correlation between HES7-c. 5T > C and Chinese short-tailed feral cats as well as the Japanese Bobtail breed, indicating a common genetic basis of the two. In addition, some of our sampled kinked-tailed cats could not be explained by either HES7 or the Manx-related T-box, suggesting at least three independent events in the evolution of domestic cats giving rise to short-tailed traits.

来源: Scientific Reports 浏览次数:0

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