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Screening for causative mutations in ovine BMPR1B and BMP15 genes and their homologous fragments in human

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The BMPR1B and BMP15 genes are well known for their considerable associations with prolificacy in sheep. These genes may also affect fertility or prolificacy in other species, including human. This study was conducted to investigate possible causative mutations in BMPR1B and BMP15 genes in human and an indigenous breed of sheep.

Methods

Blood samples were collected from 83 singleton- and prolific Mehraban ewes and 81 infertile, singleton- and twin-bearing women. A 190-bp fragment, containing the FecB mutation in ovine BMPR1B, a 380-bp fragment in ovine BMP15 gene and their homologous fragments in human were amplified and then investigated by single-stranded conformation polymorphism and DNA sequencing methods.

Results

The FecB mutation of BMPR1B (g.159A>G) was detected in the sheep population, but no polymorphic loci were found in the homologous fragment in studied human samples. The studied fragments of BMP15 were monomorphic in both sheep and human samples. A total of nine and 69 point-differences in the studied fragments of BMPR1B and BMP15 genes were detected between the species, respectively. In sheep, the G allele of BMPR1B had a positive effect on litter size (p<0.05), whereby all AG or GG ewes were prolific.

Conclusion

The FecB mutation for the first time was detected in Mehraban sheep and therefore could be considered for marker-assisted selection in this breed. The studied fragments of BMPR1B and BMP15 genes are not responsible for reproduction variation in human. More studies on other genes, associated with fertility in human, are necessary in the future.

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Data availability

The data supporting the findings were deposited in National Center for Biotechnology Information and are available by GenBank accession numbers OP985135, OP985136, OQ054808, OQ101579 and OQ101580. All data are also presented in the Figs. 3, 4, 5, and 6.

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Acknowledgments

The authors thank to Bu-Ali Sina University for supporting and providing the facilities needed for this research.

Funding

This research was funded by Bu-Ali Sina University, Hamedan. Iran.

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Authors and Affiliations

  1. Department of Animal Science, Faculty of Agriculture, Bu-Ali Sina University, Hamedan, Iran

    Pouya Zamani, Fatemeh Rabiei, Elahe Hadiei & Ahmad Ahmadi

  2. Iran Silk Research Center, Agricultural Research, Education and Extension Organization (AREEO), Gilan, Iran

    Ramin Abdoli

  3. Department of Obstetrics and Gynecology, School of Medicine, Hamadan University of Medical Sciences, Hamedan, Iran

    Soghra Rabiei

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  1. Pouya Zamani
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  2. Fatemeh Rabiei
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Contributions

Conducting experiments: PZ, FR, and EH. Analyzing and discussing data: PZ, RA, AA and SR. Writing manuscript: PZ, FR, EH, and RA. All authors read and agreed to the published version of the manuscript.

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Correspondence to Pouya Zamani.

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Zamani, P., Rabiei, F., Hadiei, E. et al. Screening for causative mutations in ovine BMPR1B and BMP15 genes and their homologous fragments in human. J Assist Reprod Genet 40, 1973–1982 (2023). https://doi.org/10.1007/s10815-023-02865-1

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  • DOI: https://doi.org/10.1007/s10815-023-02865-1

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