Screening for causative mutations in ovine BMPR1B and BMP15 genes and their homologous fragments in human,Journal of Assisted Reproduction and Genetics

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Screening for causative mutations in ovine BMPR1B and BMP15 genes and their homologous fragments in human
Journal of Assisted Reproduction and Genetics ( IF 3.2 ) Pub Date : 2023-07-17 , DOI: 10.1007/s10815-023-02865-1
Pouya Zamani ₁ , Fatemeh Rabiei ₁ , Elahe Hadiei ₁ , Ramin Abdoli ₂ , Ahmad Ahmadi ₁ , Soghra Rabiei ₃

Affiliation

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.

中文翻译：

绵羊 BMPR1B 和 BMP15 基因及其人类同源片段的致病突变筛选

目的

BMPR1B和BMP15基因因其与绵羊繁殖力的密切关系而闻名。这些基因也可能影响其他物种（包括人类）的生育力或繁殖力。本研究旨在调查人类和本土绵羊品种中BMPR1B和BMP15基因可能的致病突变。

方法

血液样本采集自 83 只多产的单胎 Mehraban 母羊和 81 只不育、单胎和双胞胎的女性。扩增了绵羊BMPR1B中含有FecB突变的190bp片段、绵羊BMP15基因中的380bp片段以及它们在人中的同源片段，然后通过单链构象多态性和DNA测序方法进行了研究。

结果

在绵羊群体中检测到BMPR1B （g.159A>G）的FecB突变，但在研究的人类样本中的同源片段中未发现多态性位点。所研究的BMP15片段在绵羊和人类样本中都是单态的。在所研究的BMPR1B和BMP15基因片段中，在物种之间分别检测到总共 9 个和 69 个点差异。在绵羊中， BMPR1B的 G 等位基因对产羔数有积极影响 ( p <0.05)，因此所有 AG 或 GG 母羊都是多产的。