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Fig. 3 | BMC Genomics

Fig. 3

From: Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population

Fig. 3

Fine mapping of a QTL for male fertility on BTA1. a Association of haplotypes (bars) and imputed sequence variants (diamonds) located between 93 and 97 Mb with bull fertility. Red framed bars represent significantly associated haplotypes. Imputed sequence variants that exceeded the Bonferroni-corrected significance threshold and were compatible with recessive inheritance of the top haplotype are displayed in red. The black dot indicates the SPATA16:p.Ile193Met variant (BTA1:94,396,804A > G). Blue colour indicates testis-specific expressed genes. b Transcript abundance (quantified in transcripts per million (TPM)) in testis tissue of adult (blue) and newborn cattle. Blue labels indicate testis-specific expressed genes. c Clustal Omega multi-species alignment of SPATA16 in Gallus gallus (ENSGALT00000052301.3), Mus musculus (ENSMUST00000047005.10), Canis lupus familiaris (ENSCAFT00000062886.1), Homo sapiens (ENST00000351008.4), Sus scrofa (ENSSSCT00000060926.2), Equus caballus (ENSECAT00000012917.2), Ovis aries (ENSOART00020000622.1) and Bos taurus wild-type (ENSBTAT00000061217.3) and mutant (I193M). d TrEMBL 3D-structure prediction of wildtype bovine SPATA16 (F1MN96) in cartoon (left) and surface (right) representation. The isoleucine at position 193 (red arrow) resides within an alpha helix on the surface of SPATA16

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