Polymorphism of 5′ regulatory region of ovine FSHR gene and its association with litter size in Small Tail Han sheep

Abstract

Single nucleotide polymorphisms of 5' regulatory region of follicle-stimulating hormone receptor (FSHR) gene were detected in two high prolificacy sheep breeds (Small Tail Han and Hu sheep) and two low prolificacy sheep breeds (Corriedale and Chinese Merino sheep) by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). The results indicated that there were three genotypes (AA, AB and BB) detected by primer 1 in Hu sheep while only one genotype (AA) in other three sheep breeds, and frequencies of AA, AB and BB genotypes in Hu sheep were 0.700, 0.225 and 0.075, respectively. There were three genotypes (EE, EF and EG) detected by primer 3 in Small Tail Han sheep while only EE genotype occurred in other three sheep breeds, and frequencies of EE, EF and EG genotypes in Small Tail Han sheep were 0.775, 0.200 and 0.025, respectively. No polymorphism was detected in four sheep breeds by primer 2 and primer 4. The sequencing results showed that there were two nucleotide mutations (g. -681T>C and g. -629C>T) in genotype BB compared with AA for primer 1. As for primer 3, two mutations (g. -197G>A and g. -98T>C) in genotype EF compared with EE and two mutations (g. -200G>A and g. -197G>A) in genotype EG compared with EE. The heterozygous ewes with EG or EF had 0.89 (P < 0.05) or 0.42 (P < 0.05) lambs more than homozygous ewes (EE genotype) in Small Tail Han sheep, respectively, while there was no significant difference on litter size between EG and EF ewes.

Molecular characterization, expression, polymorphism of NR5A2 and its relationship with litter size in Hu sheep

“…At present, IGF1 (He et al, 2012), FSHR (Chu et al, 2012a), KISS-1/GPR54 (Chu et al, 2012b), PPNR (Guan et al, 2011), INHBB (Chu et al, 2011a) and BMPR-IB (Chu et al, 2011b) have been identified as candidate genes affecting Hu sheep fecundity. However, until now, no gene with a major effect on reproduction has been identified.…”

FSHR genotype affects estrogen levels but not pregnancy rates in Luxi cattle subjected to embryo transfer

“…In humans, the SNP G-29A in the 5'-upstream region of the FSHR gene has been detected in both women with primary and secondary amenorrhea in India (Achrekar et al, 2010) and infertile men in Southeast Turkey (Balkan et al, 2010). In goats, five mutations (C-93A, G-80C, C-63A, C-56G, and T-55C) have been identified in Xiangdong Black, Nanjiang Brown and Guizhou Black goats (Zhu et al, 2007), two SNPs (C-629T and T-681C) in Hu sheep, and three novel SNPs (G-200A, G-197A and T-98C) in Small Tail Han sheep in the 5'-upstream region of the FSHR gene (Chu et al, 2012), where these mutations are significantly associated with litter size traits. SNP G-278A was found in Chinese Holstein cows in our previous study (Yang et al, 2010), and also detected in Luxi cattle in this study.…”

“…Due to the important roles of FSH in follicular growth and ovarian steroidogenesis in females, mutations in the FSHR gene could affect reproductive ability. So far, a large number of mutations have been detected in the FSHR gene, which are associated with reproductive diseases in humans such as polycystic ovary syndrome (Whitney et al, 1995;Conway et al, 1999), ovarian dysgenesis, secondary amenorrhea, or partial FSH resistance syndrome (Beau et al, 1998;Touraine et al, 1999), and superovulation response in cows (Yang et al, 2010), as well as litter size in Small Tail Han sheep (Chu et al, 2012). However, whether the FSHR polymorphism has any effect on pregnancy rate is currently unknown.…”

Polymorphism of the GDF9 Gene in Russian Sheep Breeds

“…Marker selection is an important trend in practical genetics (Marker Assisted Selection -MAS), suggesting the use of DNA markers associated with productivity traits [3,4]. The DNA marker-based technologies are widely applied in national breeding programs in several countries with developed sheep breeding [5,6].…”