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Presence of SNPs in GDF9 mRNA of Iranian Afshari Sheep
Authors: Shahin Eghbalsaied, Ph.D , Kamran Ghaedi, Ph.D , Somayeh Shahmoradi, M.Sc , Akbar Pirestani, Ph.D , Hamidreza Amini, M.Sc , Talat Saiedi, M.Sc , Akbar Pirestani, Ph.D , Linda Nicol, B.Sc , Alan McNeilly, D.Sc
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Background: Multiple births occur frequently in some Iranian sheep breeds, while infertility
scarcely occurs. Mutation detection in major fecundity genes has been explored in most of Iranian
sheep flocks over the last decade. However, previously reported single nucleotide polymorphisms
(SNPs) for bone morphogenetic protein receptor-(BMPR)-1B and growth differentiation factor )
GDF9( known to affect fertility have not been detected. This study was conducted to assess whether
any significant mutations in GDF9 were extracted from slaughtered ewe ovaries of Iranian Afshari
sheep breed.
Materials and Methods: Ovaries defined as poor, fair, and excellent quality based on external
visual appearance of follicles were used for histology and RNA extraction processes. High quality
RNAs underwent reverse transcriptase-polymerase chain reaction (RT-PCR) from GDF9 mRNA,
and the products sequenced.
Results: No streak ovaries, which are considered indicators of infertility due to homozygocity for
some mutations in GDF9 and BMP15, were found. Sequencing results from GDF9 cDNA showed
that G2 (C471T), G3 (G477A), and G4 (G721A) mutations were observed from 1, 4, and 1 out of
12 ewes, respectively. Though all 3 mutations were previously reported, this is the first report on
their presence in Iranian breeds. The first and second mutations do not alter the amino acids, while
G4 is a non-conservative mutation leading to E241K in the prohormone.
Conclusion: As the G4 mutation was observed only in ovaries defined superficially as top quality,
it could be considered as one of reasons for higher ovulation rate in some sheep. Furthermore since
multiple mutations were observed in some cases, it might be possible that combinations of minor
mutations in GDF9 and BMP15 interact to affect fecundity in some Iranian sheep breeds.