Detection of novel single-nucleotide polymorphisms (SNPs) in the CYP21 gene and association analysis of two SNPs for CYP21 and ESR2 with litter size in a commercial sow population

• Published in: Journal of animal breeding and genetics (1986) Vol. 123; no. 5; pp. 343 - 348
• Main Authors: Buske, B, Sternstein, I, Reißmann, M, Brockmann, G
• Format: Journal Article Web Resource
• Language: English
• Published: Oxford, UK Oxford, UK : Blackwell Publishing Ltd 01.10.2006; Blackwell Publishing Ltd; Blackwell Publishing
• Subjects: alleles; amino acid sequences; Animal production & animal husbandry; Animals; Association analysis; candidate gene approach; CYP21; ESR2; estrogens; Exons; Female; Fertility - genetics; Gene Frequency; genes; Genetics & genetic processes; Genotype; Génétique & processus génétiques; hormone receptors; Life sciences; Litter Size; Litter Size - genetics; molecular sequence data; nucleotide sequences; oxidoreductases; parity (reproduction); piglets; pigs; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Productions animales & zootechnie; Receptors, Estrogen - genetics; Sciences du vivant; selection criteria; single nucleotide polymorphism; Sow; sows; Steroid 21-Hydroxylase - genetics; Swine - genetics; Swine - physiology
• ISSN: 0931-2668; 1439-0388; 1439-0388
• DOI: 10.1111/j.1439-0388.2006.00609.x

Altogether 129 F₁ sows from a commercial sow farm with at least four litters were genotyped for the oestrogen receptor 2 gene (ESR2) and cytochrome P450 hydroxylase 21 gene (CYP21) and investigated for associations on the litter-size parameters: total number born and number born alive. Five novel polymorphisms were found in the 3'-untranslated region for the CYP21 gene. Genotype and allele frequencies for the CYP21 (position 3462G > A) single-nucleotide polymorphism (SNP) were 0.434 (GG), 0.504 (AG), 0.062 (AA) and 0.69 (G):0.31 (A), respectively. No association was found between this polymorphism and litter-size parameters. For the ESR2 gene, the SNP in exon 5 associated with an amino acid substitution MET (allele A) > VAL (allele G) was investigated. Only two genotypes were found leading to allele frequencies of 0.34 (A):0.66 (G). Only number born alive piglets were significantly increased for the AG genotype (p = 0.034) with 11.64 piglets per sow and litter in comparison with the GG genotype, leading to only 10.96 piglets per sow and litter. From these data, it can be concluded that the investigated SNP of the ESR2 gene is associated with the number of liveborn piglets in the commercial population considered, and hence could be useful in selection for litter size. Therefore, this gene should be investigated in additional populations.