Abstract

The tail of many animal species is responsible for various physiological functions. The functional importance of tail may have brought tail-loss to attention in many evolutionary and developmental studies. To provide a better explanation for the loss of tail, the current study aims to identify the evolutionary history and putative causal variants for the short tail in DongGyeongi (DG), an endangered dog breed, which is also the only dog in Korea that possesses a short tail. Whole genome sequencing was conducted on 22 samples of DG, followed by an investigation of population stratification with 10 other dog breeds. The genotypes, selective sweep and demography of DG were also investigated. As a result, we discovered the unique genetic structure of DG and suggested two possible ways in which the short tail phenotype developed. Moreover, this study suggested that selective sweep genes, ANKRD11 and ACVR2B may contribute to the reduction in tail length, and non-synonymous variant in the coding sequence of T gene and the CpG island variant of SFRP2 gene are the candidate causal variants for the tail-loss.

Highlights

  • The tail of many animal species is responsible for various physiological functions

  • DG is the oldest and endangered dog breed in Korea (Dongkyung jabki, AD 1669, Sungho sasul, AD 1740) that the population of DG and its genetic information is maintained and preserved by the Korean government (Cultural Heritage Administration of Korea, number: 540); about 600 DG are currently being protected in Korea

  • The sequencing of 22 DG used in this study represents significant proportion of the current genetic pool of the entire DG population (Supplementary Figs S1 and S2) but it will prevent complete loss of DG’s genetic information

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Summary

Introduction

The tail of many animal species is responsible for various physiological functions. The functional importance of tail may have brought tail-loss to attention in many evolutionary and developmental studies. The absence of TBX6 was reported to induce neural plate and somite development[8, 9] This implies that TBX6 regulates differentiation of posterior stem cells which form a tail in the later stages. One of the preceding works on non-model organisms investigated shortening of tail in Pembroke Welsh Corgi[11] which is a representative dog breed with short tail, while another study analysed tail-loss in 23 different dog breeds[4]. These studies suggested that a non-synonymous variant in T gene causes the short tail, it did not apply to all the dog breeds with short tail. Records, Dongkyung jabki (published in AD 1669) and Sungho sasul (published in AD 1740) as well as the clay dolls of DG excavated from the remains of the ancient Kingdom, Silla proves that this breed has been bred in Korea for at least 1,000 years

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