A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle

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Pausch , H , Venhoranta , H , Wurmser , C , Hakala , K , Iso-Touru , T , Sironen , A , Vingborg , R K , Lohi , H , Soderquist , L , Fries , R & Andersson , M 2016 , ' A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle ' , BMC Genetics , vol. 17 , 49 . https://doi.org/10.1186/s12863-016-0356-7

Title: A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle
Author: Pausch, Hubert; Venhoranta, Heli; Wurmser, Christine; Hakala, Kalle; Iso-Touru, Terhi; Sironen, Anu; Vingborg, Rikke K.; Lohi, Hannes; Soderquist, Lennart; Fries, Ruedi; Andersson, Magnus
Contributor organization: Departments of Faculty of Veterinary Medicine
Research Programs Unit
Hannes Tapani Lohi / Principal Investigator
Veterinary Biosciences
Veterinary Genetics
Research Programme for Molecular Neurology
Production Animal Medicine
Date: 2016-02-29
Language: eng
Number of pages: 9
Belongs to series: BMC Genetics
ISSN: 1471-2156
DOI: https://doi.org/10.1186/s12863-016-0356-7
URI: http://hdl.handle.net/10138/160818
Abstract: Background: Artificial insemination is widely used in many cattle breeding programs. Semen samples of breeding bulls are collected and closely examined immediately after collection at artificial insemination centers. Only ejaculates without anomalous findings are retained for artificial insemination. Although morphological aberrations of the spermatozoa are a frequent reason for discarding ejaculates, the genetic determinants underlying poor semen quality are scarcely understood. Results: A tail stump sperm defect was observed in three bulls of the Swedish Red cattle breed. The spermatozoa of affected bulls were immotile because of severely disorganized tails indicating disturbed spermatogenesis. We genotyped three affected bulls and 18 unaffected male half-sibs at 46,035 SNPs and performed homozygosity mapping to map the fertility disorder to an 8.42 Mb interval on bovine chromosome 13. The analysis of whole-genome re-sequencing data of an affected bull and 300 unaffected animals from eleven cattle breeds other than Swedish Red revealed a 1 bp deletion (Chr13: 24,301,425 bp, ss1815612719) in the eleventh exon of the armadillo repeat containing 3-encoding gene (ARMC3) that was compatible with the supposed recessive mode of inheritance. The deletion is expected to alter the reading frame and to induce premature translation termination (p.A451fs26). The mutated protein is shortened by 401 amino acids (46 %) and lacks domains that are likely essential for normal protein function. Conclusions: We report the phenotypic and genetic characterization of a sterilizing tail stump sperm defect in the Swedish Red cattle breed. Exploiting high-density genotypes and massive re-sequencing data enabled us to identify the most likely causal mutation for the fertility disorder in bovine ARMC3. Our results provide the basis for monitoring the mutated variant in the Swedish Red cattle population and for the early identification of infertile animals.
Subject: ARMC3
Tail stump sperm defect
Swedish Red cattle
Male infertility
3111 Biomedicine
413 Veterinary science
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: publishedVersion

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