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• W1963534839 endingPage "e1004044" @default.
• W1963534839 startingPage "e1004044" @default.
• W1963534839 abstract "Genetic variants underlying reduced male reproductive performance have been identified in humans and model organisms, most of them compromising semen quality. Occasionally, male fertility is severely compromised although semen analysis remains without any apparent pathological findings (i.e., idiopathic subfertility). Artificial insemination (AI) in most cattle populations requires close examination of all ejaculates before insemination. Although anomalous ejaculates are rejected, insemination success varies considerably among AI bulls. In an attempt to identify genetic causes of such variation, we undertook a genome-wide association study (GWAS). Imputed genotypes of 652,856 SNPs were available for 7962 AI bulls of the Fleckvieh (FV) population. Male reproductive ability (MRA) was assessed based on 15.3 million artificial inseminations. The GWAS uncovered a strong association signal on bovine chromosome 19 (P = 4.08 × 10(-59)). Subsequent autozygosity mapping revealed a common 1386 kb segment of extended homozygosity in 40 bulls with exceptionally poor reproductive performance. Only 1.7% of 35,671 inseminations with semen samples of those bulls were successful. None of the bulls with normal reproductive performance was homozygous, indicating recessive inheritance. Exploiting whole-genome re-sequencing data of 43 animals revealed a candidate causal nonsense mutation (rs378652941, c.483C>A, p.Cys161X) in the transmembrane protein 95 encoding gene TMEM95 which was subsequently validated in 1990 AI bulls. Immunohistochemical investigations evidenced that TMEM95 is located at the surface of spermatozoa of fertile animals whereas it is absent in spermatozoa of subfertile animals. These findings imply that integrity of TMEM95 is required for an undisturbed fertilisation. Our results demonstrate that deficiency of TMEM95 severely compromises male reproductive performance in cattle and reveal for the first time a phenotypic effect associated with genomic variation in TMEM95." @default.
• W1963534839 created "2016-06-24" @default.
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• W1963534839 date "2014-01-02" @default.
• W1963534839 modified "2023-09-30" @default.
• W1963534839 title "A Nonsense Mutation in TMEM95 Encoding a Nondescript Transmembrane Protein Causes Idiopathic Male Subfertility in Cattle" @default.
• W1963534839 cites W1502811099 @default.
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• W1963534839 cites W1967368474 @default.
• W1963534839 cites W1968790784 @default.
• W1963534839 cites W1971147414 @default.
• W1963534839 cites W1975831721 @default.
• W1963534839 cites W1995653121 @default.
• W1963534839 cites W1997352429 @default.
• W1963534839 cites W1997424334 @default.
• W1963534839 cites W2000553262 @default.
• W1963534839 cites W2001582587 @default.
• W1963534839 cites W2010690287 @default.
• W1963534839 cites W2014763465 @default.
• W1963534839 cites W2015972996 @default.
• W1963534839 cites W2033975975 @default.
• W1963534839 cites W2035578557 @default.
• W1963534839 cites W2039800740 @default.
• W1963534839 cites W2056886869 @default.
• W1963534839 cites W2059542829 @default.
• W1963534839 cites W2065630793 @default.
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• W1963534839 cites W2083755533 @default.
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• W1963534839 cites W2092569510 @default.
• W1963534839 cites W2096060324 @default.
• W1963534839 cites W2096791516 @default.
• W1963534839 cites W2101632015 @default.
• W1963534839 cites W2103358187 @default.
• W1963534839 cites W2103441770 @default.
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• W1963534839 cites W2106882534 @default.
• W1963534839 cites W2108234281 @default.
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• W1963534839 doi "https://doi.org/10.1371/journal.pgen.1004044" @default.
• W1963534839 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3879157" @default.
• W1963534839 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24391514" @default.
• W1963534839 hasPublicationYear "2014" @default.
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