Association of CYP19A1 gene polymorphisms with anoestrus in water buffaloes

Abstract

Cytochrome P450 aromatase (encoded by the CYP19A1 gene) regulates oestrogen biosynthesis and so plays an essential role in female fertility. We investigated the genetic association of CYP19A1 with the risk of anoestrus in Egyptian water buffaloes. A total of 651 animals (326 anoestrous and 325 cycling) were used in this case-control study. Using single-strand conformation polymorphisms and sequencing, four single nucleotide polymorphisms (SNPs) were detected; c.-135T>C SNP in the 5'UTR and three non-synonymous SNPs: c.559G>A (p. V187M) in Exon 5, c.1285C>T (p. P429S) and c.1394A>G (p. D465G) in Exon 10. Individual SNP-anoestrus association analyses revealed that genotypes (CC, AA and GG) and alleles (C, A and G) of the -135T>C, c.559G>A and c.1394A>G SNPs respectively were high risk for anoestrus. A further analysis confirmed that these three SNPs were in linkage disequilibrium. Additionally, haplotypes with two (TAG/122 and CAA/221) or three (CAG/222) risk alleles were significantly associated with susceptibility to anoestrus, lower blood levels of both oestradiol and antioxidant enzymes (superoxide dismutase, glutathione peroxidase (GPX) and catalase) and downregulated expression levels of CYP19A1, oestrogen receptor α and Gpx3 in the ovary, as well as increased serum level of malondialdehyde. This suggests the occurrence of a high incidence of oxidative ovarian damage and subsequently ovarian inactivity in buffaloes carrying risk alleles. Therefore, with this study we suggest the selection of buffaloes with protective alleles at these SNPs to improve the reproductive efficiency of the herd.

Association of GHR Polymorphisms with Milk Production in Buffaloes

“…This study is part of a broader project targeting the genetic improvement of the of Egyptian water buffaloes. We previously screened IGF1, IGF1R, IGF2, IGF2R, and Cyp19A1 for polymorphisms and analyzed their associations with growth traits and fertility [15,16,18,24,26]. Herein, we extended our investigation to identify genetic variations in the GHR gene and determine their potential effects on milk production traits.…”

“…Again, Shi et al [13] did not study the effect of this important SNP on milk production and milk quality traits in buffaloes. Although many studies reported the ability of noncoding polymorphisms including: synonymous, intergenic and intronic SNPs to modify complex traits in animals [14][15][16], it is still essential to study non-synonymous SNPs, as they could directly alter the amino acids sequence, which could possibly lead to phenotypic variation. Therefore, in this study, we screened coding sequences of E4-E6 and E8 for polymorphisms.…”

Potential Amelorative Effect of Panax Ginseng on Hepatorenal Damage Ocuured in Hydroxurea-Treated Rats

“…About 1 g of kidney and liver of each euthanized animal were separated, perfuse with phosphate buffer saline solution (PBS) solution (pH, 7.4) containing 0.16 mg/ ml heparin to remove any blood or clots, and homogenized in 9 ml PBS solution using tissue homogenizer (Glas-Col. Tissues homogenizer, China). Homogenate aliquots were centrifuged at 10,000 × g for 30 min, supernatant were removed and stored at -80 till the time of assessment of concentration of malondialdehyde (MDA) and activity of glutathione peroxidase enzymes (GPX) using locally available kits (BiodiagnosticEgypt; Biovision, USA) and as previously described (35). Protein content was detected using Bradford's reagent (Sigma-Aldrich, USA).…”

Asian water buffalo: domestication, history and genetics

“…The luteinising hormone beta polypeptide ( LHB ) (Cheng et al ) and gonadotropin‐releasing hormone receptor ( GnRHR ) (Wang et al ) were recently shown to be associated with semen production traits, including ejaculate volume and sperm qualities, in Chinese swamp buffaloes. Variants affecting Egyptian river buffalo female fertility, in terms of susceptibility to anoestrus, have been identified at four SNPs, one in the 5′UTR and three in exon 10 of the cytochrome P450 aromatase ( CYP19A1 ) gene (El‐Bayomi et al ). Similarly, pregnancy rate seems to be associated with different genotypes at the melatonin receptor 1A ( MTNR1A ) gene in melatonin‐treated Murrah river buffaloes (Pandey et al ).…”