Association of CYP19A1 gene polymorphisms with anoestrus in water buffaloes

Autor: Mohammed A. El-Magd, Walaa M. Essawi, Khairy M. El-Bayomi, Mahmoud S. El-Tarabany, Shymaa M El-Komy, Ashraf Awad, Hadeel S. El-Qaliouby, Ayman A. Saleh, Mohamed Afifi, Essam A. Almadaly
Rok vydání: 2016
Předmět:
0301 basic medicine
medicine.medical_specialty
Linkage disequilibrium
Heterozygote
GPX3
Buffaloes
Single-nucleotide polymorphism
Reproductive technology
Biology
Polymorphism
Single Nucleotide
Linkage Disequilibrium
Anestrus
03 medical and health sciences
Endocrinology
Aromatase
Gene Frequency
Internal medicine
Malondialdehyde
Genotype
Genetics
medicine
Animals
Allele
Molecular Biology
Genetic association
Glutathione Peroxidase
Estradiol
Superoxide Dismutase
Haplotype
Homozygote
Ovary
0402 animal and dairy science
Estrogen Receptor alpha
04 agricultural and veterinary sciences
Exons
Catalase
040201 dairy & animal science
Oxidative Stress
030104 developmental biology
Phenotype
Reproductive Medicine
Haplotypes
Animal Science and Zoology
Female
5' Untranslated Regions
Biomarkers
Developmental Biology
Biotechnology
Zdroj: Reproduction, fertility, and development. 30(3)
ISSN: 1031-3613
Popis: 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.
Databáze: OpenAIRE
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