Title of article :
Screening for Causative Mutations of Major Prolificacy Genes in Iranian Fat-Tailed Sheep
Abdoli, Ramin Department of Animal Science - Faculty of Agricultural Sciences - University of Guilan, Rasht , Mirhoseini, Ziaeddin Department of Animal Science - Faculty of Agricultural Sciences - University of Guilan, Rasht , Ghavi Hossein-Zadeh, Navid Department of Animal Science - Faculty of Agricultural Sciences - University of Guilan, Rasht , Zamani, Pouya Department of Animal Science - Faculty of Agriculture - Bu-Ali Sina University, Hamedan
Background: The presence of different missense mutations in sheep breeds have shown that the bone morphogenetic
protein receptor 1B (BMPR1B), bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9)
genes play a vital role in ovulation rate and prolificacy in ewes. Therefore, the present study aims to investigate BMPR1B,
BMP15 and GDF9 gene mutations in prolific ewes of Iranian fat-tailed Lori-Bakhtiari sheep.
Materials and Methods: In the present experimental study, genomic DNA was extracted from whole blood of 10
prolific Lori-Bakhtiari ewes with at least two twinning records in the first four parities to identify point mutations of
the BMPR1B, BMP15 and GDF9 genes, using DNA sequencing.
Results: The results obtained from DNA sequencing showed a new synonymous mutation (g.66496G>A) in exon 8
of the BMPR1B gene, without any amino acid change. Sequencing of the BMP15 gene revealed a deletion of 3 bp
(g.656_658delTTC) in exon 1, leading to an amino acid deletion (p.Leu19del). Four single nucleotide polymorphisms
(G1:g.2118G>A, G2:g.3451T>C, G3:g.3457A>G and G4:g.3701G>A), were detected in exons 1 and 2 of the GDF9
gene, two of which caused amino acid substitutions (G1: p.87Arg>His and G4: p.241Glu>Lys). These amino acid
alterations are proposed to have a benign impact on structure and function of the GDF9 polypeptide sequence.
Conclusion: Three major prolificacy genes (BMPR1B, BMP15 and GDF9) were polymorphic in Lori-Bakhtiari sheep,
although none of the major causative mutation was detected in this sheep type. Further studies using high throughput
methods such as genome-wide association study (GWAS) and evaluation of other candidate genes are necessary in the
Fertility , Litter Size , Single Nucleotide Polymorphism , Sheep
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