title: Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats.
abstract: 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.
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: Xiao
authors: X
authors: Xu
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: Xin
authors: X
authors: Sun
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: Xue-Song
authors: XS
authors: Hu
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: Yan
authors: Y
authors: Zhuang
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: Yue-Chen
authors: YC
authors: Liu
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: Hao
authors: H
authors: Meng
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: Lin
authors: L
authors: Miao
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: He
authors: H
authors: Yu
authors: Peking-Tsinghua Center for Life Sciences, Laboratory of Genomic Diversity and Evolution, School of Life Sciences, Peking University, Beijing 100871, China.
authors: Shu-Jin
authors: SJ
authors: Luo
mesh_terms: D000818:Animals; D000829:Animals, Domestic; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002415:Cats / Q000033:anatomy & histology / Q000235:genetics*; D002681:China; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian / Q000235:genetics; D005260:Female; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D013623:Tail / Q000033:anatomy & histology / Q000378:metabolism*; D000073336:Whole Genome Sequencing / Q000379:methods*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins