Polymorphisms in the bone morphogenetic protein 15 gene and their effect on sperm quality traits in Chinese Holstein bulls

Sun, Liping; Song, Ya-Pan; Du, Qing-Zhi; Song, Luo-Wen; Tian, Yingfang; Zhang, S L; Hua, Guo; Yang, Liguo

doi:10.4238/2014.march.17.8

Cited by 10 publications

(4 citation statements)

References 28 publications

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“…Mutations of the GDF9 gene have an effect on sperm quality traits . In bulls, a single‐nucleotide polymorphism of the BMP15 gene has a significant effect on fresh sperm motility . It was concluded that BMP15 should be considered as a potential genetic marker for sperm quality.…”

Section: Discussionmentioning

confidence: 99%

BMP15 “knockout‐like” effect in familial premature ovarian insufficiency with persistent ovarian reserve

et al. 2017

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Premature ovarian insufficiency (POI) affects 1% to 2% of women under 40 years. Bone morphogenetic protein 15 (BMP15) variants have been described in POI. We studied a family with 2 sisters compound heterozygous for deletions in the BMP15 gene on chromosome Xp11.22 yielding a human "knockout-like" effect: a c.151_152delGA deletion yielded a p.Glu51IlefsTer27 mutation transmitted by the hemizygous father and a c.189_198delAGGGCATTCAinsTG deletion/insertion yielded a p.Glu64AlafsTer12 mutation transmitted by the heterozygous mother. Both deletions resulted in frameshifts with premature stop codons at positions 78 and 76 in the proregion, precluding mature BMP15 production. One sister had primary amenorrhea and the other primo-secondary amenorrhea. No bone abnormality was observed. Despite streak ovaries devoid of follicles on ultrasonography, anti-Mullerian hormone (AMH) levels were low but detectable suggesting the presence of growing follicles. Five years later, AMH was undetectable in both sisters, 1 had received an egg donation. BMP15 did not seem critical for follicles to enter the growth phase. Genetic counselling should be performed and fertility preservation discussed before progressive loss of follicular reserve. The fertile heterozygous mother did not support previous reports of BMP15 haploinsufficiency and gene dosage in humans, as in bovine species. The hemizygous brother had asthenozoospermia, consistent with previous observations in bulls with a variant BMP15.

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Section: Discussionmentioning

confidence: 99%

BMP15 “knockout‐like” effect in familial premature ovarian insufficiency with persistent ovarian reserve

et al. 2017

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“…bmp15l is expressed in the salmon testis/germ cells, as well as in the testis of several species (Clelland et al, 2006;Chen et al, 2012;Zhang et al, 2014;Vilchez et al, 2015). Interestingly, an association between mutation in the BMP15 gene and sperm quality was recently reported for Chinese Holstein bull, and the authors of this study suggest that BMP15 may regulate testicular function, given its high expression in the bull testis (Sun et al, 2014). Here, we showed that bmp15l expression is restricted to the germ cells of the salmon testis, where it may also regulate sperm quality.…”

Section: Molecular Reproduction and Developmentmentioning

confidence: 99%

bmp15l, figla, smc1bl, and larp6l are preferentially expressed in germ cells in Atlantic salmon (Salmo salar L.)

Kleppe

Edvardsen

Furmanek

et al. 2016

Molecular Reproduction Devel

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Atlantic salmon is a valuable commercial aquaculture species that would benefit economically and environmentally by controlling precocious puberty and preventing escapees from reproducing with wild populations. One solution to both these challenges is the production of sterile individuals by inhibiting the formation of germ cells, but achieving this requires more information on the specific factors that control germ cell formation. Here, we identified and characterized novel factors that are preferentially expressed in Atlantic salmon germ cells by screening for gonad-specific genes using available adult multi-tissue transcriptomes. We excluded genes with expression in tissues other than gonads based on quantity of reads, and then a subset of genes was selected for verification in a multi-tissue PCR screen. Four gonad-specific genes (bmp15l, figla, smc1bl, and larp6l) were chosen for further characterization, namely: germ cell specificity, investigated by comparing mRNA abundance in wild-type and germ cell-free gonads by quantitative real-time PCR, and cellular location, visualized by in situ hybridization. All four genes were expressed in both testis and ovary, and preferentially within the germ cells of both sexes. These genes may be essential players in salmon germ cell development, and could be important for future studies aiming to understand and control reproduction. Mol. Reprod. Dev. 84: 76-87, 2017. © 2016 Wiley Periodicals, Inc.

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“…Differences in the pregnancy rates related to polymorphisms of the BMP15 gene have been reported by Sun et al [30], who found that Chinese Holstein bulls of the CT genotype had a significantly lower sperm motility than did bulls of the CC or TT genotypes. In sheep, Chen et al [13] reported the expression of BMP15 in the epididymis of rams, which was significantly higher in a less-fecund breed (Sunite) than it was in a high-fecundity breed (Small Tail Han).…”

Section: Discussionmentioning

confidence: 59%

Semen Quality of Rasa Aragonesa Rams Carrying the FecXR Allele of the BMP15 Gene

Abecia

Macías²,

Casao

et al. 2020

Animals

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The FecXR mutation is a variant of the ovine gene BMP15 in the Rasa Aragonesa breed. Information on the physiological importance of carrying the FecX polymorphism in rams is limited. The aim of this study was to compare semen quality, testicle characteristics, and fertility rate of rams that carry the FecXR allele. Rams (n = 15) were either FecXR allele carriers (n = 10) or non-carriers, wild type (++) (n = 5). FecXR rams exhibited higher mass motility (p < 0.05), proportion of rapid sperm (p < 0.05), and a lower proportion of slow sperm (p < 0.0001) than did ++ rams. The presence of the FecXR allele was not associated with mean scrotal circumference or testicular length and diameter, although season had a significant (p < 0.05) effect on these traits. Genotype (p < 0.05) and season (p < 0.01) had a significant effect on mean fertility rate, FecXR rams had a higher proportion of pregnant ewes than did ++ rams (p < 0.05). In conclusion, the FecXR allele produced high-quality semen throughout the year, and corresponded with an improvement in some sperm parameters, particularly, mass motility and the proportion of rapid sperm.

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Polymorphisms in the bone morphogenetic protein 15 gene and their effect on sperm quality traits in Chinese Holstein bulls

Cited by 10 publications

References 28 publications

BMP15 “knockout‐like” effect in familial premature ovarian insufficiency with persistent ovarian reserve

BMP15 “knockout‐like” effect in familial premature ovarian insufficiency with persistent ovarian reserve

bmp15l, figla, smc1bl, and larp6l are preferentially expressed in germ cells in Atlantic salmon (Salmo salar L.)

Semen Quality of Rasa Aragonesa Rams Carrying the FecXR Allele of the BMP15 Gene

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