Abstract:The genetic diversity of a single nucleotide polymorphism (SNP) at the exon 20 (T945M) of the leptin receptor gene (LEPR) and of three short tandem repeats (STRs BM7225, BMS694, and BMS2145) linked to LEPR was investigated in three beef cattle herds (Brangus Ibagé, Charolais, and Aberdeen Angus). A cheap and effective new method to analyze the T945M polymorphism in cattle populations was developed and the possible role of these polymorphisms in reproduction and weight gain of postpartum cows was evaluated. Hig… Show more
“…Few studies exist on LEPR gene in cattle. The SNP here considered was shown to be associated with leptin concentration during late pregnancy in Friesian breed (Liefers et al, 2004), while no relationships with daily gain were found in Aberdeen Angus and Charolais breeds (Almeida et al, 2008). In opposition to the findings in beef cattle, the present study revealed that the LEPR had the largest effect on daily gain.…”
In the last years an increasing number of associations between single nucleotide polymorphisms (SNPs) in candidate genes and production traits have been reported in beef cattle, but very often the results were not validated and few studies considered breeds homozygous for the allele responsible for the muscular hypertrophy. Therefore, we analysed the variability of 19 previously reported SNPs in 12 genes (GH, GHR, GDF8, GHRL, IGF2, LEP, LEPR, MYF5, NPY, POMC, UCP2, UCP3) in the hypertrophic Piemontese breed and investigated the effects of the observed polymorphisms on growth and conformation. Fourteen SNPs were polymorphic and a significant linkage disequilibrium was observed between SNPs in GHR, LEP and NPY genes, for which both single-SNP and haplotype effects were estimated. Negligible effects on the investigated traits were observed for GHRL, MYF5, NPY, POMC, UCP2 and UCP3 genes. The GHR gene significantly affected daily gain and its effect was further increased when haplotypes were considered. The C allele at LEP-1 and LEP-2 had moderate negative effects on the considered traits, whereas the C allele at LEP-3 mostly had positive effects; haplotypes in the LEP gene showed weaker but favourable associations with all the traits. The C allele at IGF2 and LEPR had favourable effects on daily gain and negative effects on meat conformation traits. The associations observed for GHR and LEP were consistent with those of previous studies, providing additional evidence of their usefulness as markers. Practical aspects of the applications to the breeding programme of the Piemontese breed need to be examined.
“…Few studies exist on LEPR gene in cattle. The SNP here considered was shown to be associated with leptin concentration during late pregnancy in Friesian breed (Liefers et al, 2004), while no relationships with daily gain were found in Aberdeen Angus and Charolais breeds (Almeida et al, 2008). In opposition to the findings in beef cattle, the present study revealed that the LEPR had the largest effect on daily gain.…”
In the last years an increasing number of associations between single nucleotide polymorphisms (SNPs) in candidate genes and production traits have been reported in beef cattle, but very often the results were not validated and few studies considered breeds homozygous for the allele responsible for the muscular hypertrophy. Therefore, we analysed the variability of 19 previously reported SNPs in 12 genes (GH, GHR, GDF8, GHRL, IGF2, LEP, LEPR, MYF5, NPY, POMC, UCP2, UCP3) in the hypertrophic Piemontese breed and investigated the effects of the observed polymorphisms on growth and conformation. Fourteen SNPs were polymorphic and a significant linkage disequilibrium was observed between SNPs in GHR, LEP and NPY genes, for which both single-SNP and haplotype effects were estimated. Negligible effects on the investigated traits were observed for GHRL, MYF5, NPY, POMC, UCP2 and UCP3 genes. The GHR gene significantly affected daily gain and its effect was further increased when haplotypes were considered. The C allele at LEP-1 and LEP-2 had moderate negative effects on the considered traits, whereas the C allele at LEP-3 mostly had positive effects; haplotypes in the LEP gene showed weaker but favourable associations with all the traits. The C allele at IGF2 and LEPR had favourable effects on daily gain and negative effects on meat conformation traits. The associations observed for GHR and LEP were consistent with those of previous studies, providing additional evidence of their usefulness as markers. Practical aspects of the applications to the breeding programme of the Piemontese breed need to be examined.
“…However, studies of LEPR gene polymorphism association with other characters are available; for example, Komisarek (21) reported that daughters of bulls with the TC genotype at T945M of the LEPR gene had a lower age of first insemination compared to daughters of CC homozygotes in Holstein-Friesian cattle. Almedia et al (22), in a study of 3 beef cattle breeds, observed that STR BM7225*98 was present only in the Charolais breed, and BMS 694*149 and BMS 694*153 were seen in the Brangus-Ibage breed. They further reported that these variations, along with variation at T945M, had no association with postpartum cow milk production.…”
In order to detect polymorphism in exon 20 of the leptin receptor (LEPR) gene and its possible association with postpartum anestrus (PPA), peripheral blood samples were obtained from 40 Murrah buffaloes including 20 PPA (>120 days after parturition) and 20 normal cyclic (<60 days after parturition) buffaloes having similar postpartum estrous conditions over previous consecutive gestations. Genomic DNA was isolated, and PCR was standardized to amplify partial exon 20 of the LEPR gene of 413 bp. Amplified fragments of the gene were sequenced and sequence variation was detected by assessing multiple alignments. The LEPR gene showed polymorphism at A231G, C247A, and G347A. Chi-square test of these 3 polymorphism sites between the 2 groups did not reveal any significant association of polymorphism with PPA. Hence, polymorphism at exon 20 of the LEPR gene was found in Murrah buffaloes, but the role of these polymorphisms in PPA could not be established.
“…However, in Y1138S LEPR-B mutant females in mice, this mutation induced impaired STAT3 signalling with residual STAT5 function, but it did not cause infertility [ 52 ]. In livestock species, Almeida et al [ 53 ] investigated the SNP (T945M) polymorphism in exon 20 of the LEPR gene in Angus, Brangus and Charolais cattle and found no associations with reproductive characteristics. The authors reported that blood leptin levels were influenced by this LEPR SNP in late pregnancy but not during lactation.…”
The aim of this study was to characterize and identify causative polymorphisms in the leptin receptor (LEPR) gene responsible for the seasonal variation of reproductive traits in sheep. Three reproductive seasonality traits were studied: the total days of anoestrous (TDA), the progesterone cycling months (P4CM) and the oestrous cycling months (OCM). In total, 18 SNPs were detected in 33 ewes with extreme values for TDA and OCM. Six SNPs were non-synonymous substitutions and two of them were predicted in silico as deleterious: rs596133197 and rs403578195. These polymorphisms were then validated in 239 ewes. The SNP rs403578195, located in exon 8 and leading to a change of alanine to glycine (Ala284Gly) in the extracellular domain of the protein, was associated with the OCM trait, being the G allele associated with a decrease of 12 percent of the OCM trait. Haplotype analyses also suggested the involvement of other non-synonymous SNP located in exon 20 (rs405459906). This SNP also produces an amino acid change (Lys1069Glu) in the intracellular domain of the protein and segregates independently of rs403578195. These results confirm for the first time the role of the LEPR gene in sheep reproductive seasonality.
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