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Vertebrate reproductive science and technology
RESEARCH ARTICLE

Deletion mutation within the goat PPP3CA gene identified by GWAS significantly affects litter size

Yangyang Bai A B C , Jie Li A , Haijing Zhu https://orcid.org/0000-0002-4229-2561 B C D E , Jinwang Liu B C D , Shuwei Dong B C D , Longping Li B C D , Lei Qu B C , Hong Chen A , Xiaoyue Song B C D and Xianyong Lan https://orcid.org/0000-0003-2254-5805 A F
+ Author Affiliations
- Author Affiliations

A Laboratory of Animal Genome and Gene Function, College of Animal Science and Technology; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Northwest A&F University, Yangling Shaanxi 712100, China.

B Shaanxi Provincial Engineering and Technology Research Center of Cashmere Goats, Yulin University, Yulin Shaanxi 719000, China.

C Life Science Research Center, Yulin University, Yulin Shaanxi 719000, China.

D Shaanxi Province ‘Four Subjects One Union’ Sheep and Goat Engineering & Technology University & Enterprise Alliance Research Center, Yulin, Shaanxi 719000, PR China.

E Shaanxi Haoli cashmere goat Technology Development Co., Ltd, Yulin, Shaanxi, PR China, 719000.

F Corresponding author. Email: lanxianyong79@126.com

Reproduction, Fertility and Development 33(7) 476-483 https://doi.org/10.1071/RD20337
Submitted: 23 December 2020  Accepted: 18 March 2021   Published: 22 April 2021

Abstract

The protein phosphatase 3 catalytic subunit α (PPP3CA) gene is a high reproduction traits candidate gene for goats as revealed by a genome-wide association study. The aim of this work was to explore the genetic variations of the goat PPP3CA as well as to evaluate the genetic effects on litter size. Three novel insertions/deletions (indels) within the goat PPP3CA were found and their minor allelic frequencies (MAF) were 0.105, 0.066, and 0.042, respectively. The results showed that only the 20 bp indel polymorphism was significantly associated with litter size in Shaanbei white cashmere goats (P < 0.05) and individuals with deletion/deletion (DD) genotypes demonstrated the junior phenotypes when compared with those with other genotypes. These findings suggested that the 20 bp indel is a potential DNA marker for selecting superior individuals in marker-assisted selection for breeding concerning fecundity in goats.

Graphical Abstract Image

Keywords: goat, PPP3CA, insertion/deletion (indel), litter size.


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