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

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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.

No MeSH data available.


Tail phenotypes of domestic cats from Asia.(A) a short/kinked-tailed cat in the “minor kink” category; (B) a short/kinked-tailed cat in the “medium kink” category; (C) a short/kinked-tailed cat in the “extreme kink” category; (D) a cat with a normal wild-type tail.
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f1: Tail phenotypes of domestic cats from Asia.(A) a short/kinked-tailed cat in the “minor kink” category; (B) a short/kinked-tailed cat in the “medium kink” category; (C) a short/kinked-tailed cat in the “extreme kink” category; (D) a cat with a normal wild-type tail.

Mentions: Short-tailed domestic cats are widespread in Southeast Asia and southern China and they exhibit variable shortening and kinks that can be generally classified into three categories: (1) “minor kink”, which describes a tail showing only a slight shortening (approximately 25 cm long) with kink at distal region (Fig. 1A); (2) “medium kink”, which describes a tail showing a prominent truncation (approximately 10–20 cm long) with kinks at the proximal and/or distal caudal region (Fig. 1B); and (3) “extreme kink”, which describes a bobtail with severe truncation (less than 10 cm long) and multiple kinks (Fig. 1C). Cats with “minor kink” or “medium kink” tails are more common than those with “extreme kink” tails. Despite the deformity, such shortened and kinked tails create little physiological deficit affecting survival and reproduction, as evident in the persistence and prevalence of the trait in both feral and house cats in Southeast and East Asia. Empirical breeding practices have shown that a kinked-tailed kitten is always born from at least one kinked-tailed parent and that some of its littermates, if not all, usually display variable tail length and kinks, thus suggesting that a short tail in Asian cats is a dominant trait caused by a mutation(s) with variable degrees of expressivity. However, despite the wide geographic distribution, long history of prevalence, and cultural importance of the short-tailed cat in Asia, its underlying genetic causes remain elusive.


Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats
Tail phenotypes of domestic cats from Asia.(A) a short/kinked-tailed cat in the “minor kink” category; (B) a short/kinked-tailed cat in the “medium kink” category; (C) a short/kinked-tailed cat in the “extreme kink” category; (D) a cat with a normal wild-type tail.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4997960&req=5

f1: Tail phenotypes of domestic cats from Asia.(A) a short/kinked-tailed cat in the “minor kink” category; (B) a short/kinked-tailed cat in the “medium kink” category; (C) a short/kinked-tailed cat in the “extreme kink” category; (D) a cat with a normal wild-type tail.
Mentions: Short-tailed domestic cats are widespread in Southeast Asia and southern China and they exhibit variable shortening and kinks that can be generally classified into three categories: (1) “minor kink”, which describes a tail showing only a slight shortening (approximately 25 cm long) with kink at distal region (Fig. 1A); (2) “medium kink”, which describes a tail showing a prominent truncation (approximately 10–20 cm long) with kinks at the proximal and/or distal caudal region (Fig. 1B); and (3) “extreme kink”, which describes a bobtail with severe truncation (less than 10 cm long) and multiple kinks (Fig. 1C). Cats with “minor kink” or “medium kink” tails are more common than those with “extreme kink” tails. Despite the deformity, such shortened and kinked tails create little physiological deficit affecting survival and reproduction, as evident in the persistence and prevalence of the trait in both feral and house cats in Southeast and East Asia. Empirical breeding practices have shown that a kinked-tailed kitten is always born from at least one kinked-tailed parent and that some of its littermates, if not all, usually display variable tail length and kinks, thus suggesting that a short tail in Asian cats is a dominant trait caused by a mutation(s) with variable degrees of expressivity. However, despite the wide geographic distribution, long history of prevalence, and cultural importance of the short-tailed cat in Asia, its underlying genetic causes remain elusive.

View Article: PubMed Central - PubMed

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.

No MeSH data available.