A nonsense mutation in TMEM95 encoding a nondescript transmembrane protein causes idiopathic male subfertility in cattle

PLoS Genetics
Hubert PauschRuedi Fries

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 homozyg...Continue Reading

References

Mar 1, 1979·Experimental Cell Research·J M BedfordL E Franklin
Jan 1, 1995·Human Reproduction·A J MundyD K Edmonds
Dec 1, 1994·The Journal of Clinical Endocrinology and Metabolism·S BhasinH W Baker
Mar 15, 1997·Lancet·D M de Kretser
Jul 15, 1998·Human Reproduction·D S Irvine
Jan 19, 1999·Journal of Dairy Science·M MathevonJ C Dekkers
Jan 17, 2002·The New England Journal of Medicine·D S GuzickNational Cooperative Reproductive Medicine Network
Mar 1, 2002·Archives of Andrology·J HerreraM Betancourt
Mar 12, 2004·Reproductive Biology and Endocrinology : RB&E·Anil Suri
Apr 28, 2004·Journal of Molecular Biology·Lukas KällErik L L Sonnhammer
Sep 15, 2004·Fertility and Sterility·Practice Committee of the American Society for Reproductive Medicine
Jan 18, 2006·Molecular and Cellular Endocrinology·R John Aitken, Mark A Baker
Oct 24, 2006·Fertility and Sterility·Practice Committee of the American Society for Reproductive Medicine
Jan 18, 2007·Proceedings of the National Academy of Sciences of the United States of America·Huayu QiDavid E Clapham
Mar 14, 2007·Annual Review of Biochemistry·Yao-Fu ChangMiles F Wilkinson
May 18, 2007·Reproduction in Domestic Animals = Zuchthygiene·B GredlerJohann Sölkner
Jun 21, 2007·Reproductive Biomedicine Online·Alberto FerlinCarlo Foresta
Nov 22, 2007·Photochemistry and Photobiology·Nicholas A RameyRoy S Chuck
Jul 25, 2008·Reproduction in Domestic Animals = Zuchthygiene·J P Kastelic, J C Thundathil
Aug 9, 2008·BMJ : British Medical Journal·Tarek A El-Toukhy, Yacoub Khalaf
Oct 24, 2008·Bioinformatics·Håkan ViklundArne Elofsson
Feb 10, 2009·American Journal of Human Genetics·Brian L Browning, Sharon R Browning
Apr 28, 2009·Genome Biology·Aleksey V ZiminSteven L Salzberg
May 20, 2009·Bioinformatics·Heng Li, Richard M Durbin
Jun 10, 2009·Bioinformatics·Heng Li1000 Genome Project Data Processing Subgroup
Jul 28, 2009·Journal of Animal Breeding and Genetics = Zeitschrift Für Tierzüchtung Und Züchtungsbiologie·Tom DruetAndré Eggen
Nov 26, 2009·Genetics, Selection, Evolution : GSE·Ben J HayesMike E Goddard
Jan 28, 2010·Fertility and Sterility·Katherine L O'Flynn O'BrienAshok Agarwal
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jan 7, 2011·Systems Biology in Reproductive Medicine·Douglas T Carrell, Kenneth I Aston
Apr 16, 2011·Human Reproduction Update·S GurunathSiladitya Bhattacharya
Jul 22, 2011·Science Translational Medicine·Theodore L TollnerGary N Cherr
Aug 23, 2011·Journal of Dairy Science·M BlaschekB W Kirkpatrick
Nov 8, 2011·European Urology·Daniel E HenaoWalter Cardona Maya
Dec 6, 2011·BMC Genomics·Anu SironenJohanna Vilkki
Jan 18, 2012·Annual Review of Medicine·Claudia Gonzaga-JaureguiRichard A Gibbs
Feb 10, 2012·Journal of the American Medical Informatics Association : JAMIA·Carrie C BuchananMarylyn D Ritchie
Feb 22, 2012·Science·Daniel G MacArthurChris Tyler-Smith
Sep 19, 2012·American Journal of Reproductive Immunology : AJRI·Rashmi TomarArun K Jain
Nov 7, 2012·Nature·Goncalo R AbecasisGil A McVean
Jan 4, 2013·Reproduction in Domestic Animals = Zuchthygiene·B V Lopes-SantiagoM D Lopes
Feb 15, 2013·Genetics, Selection, Evolution : GSE·Hubert PauschRuedi Fries
Jun 1, 1950·Journal of Genetics·A ROBERTSON, J M RENDEL

Citations

Dec 5, 2014·Reproduction, Fertility, and Development·Aurélien CapitanSébastien Fritz
Dec 15, 2015·Reproduction in Domestic Animals = Zuchthygiene·S AttiaMagnus Andersson
Apr 3, 2016·Genetics, Selection, Evolution : GSE·Hermann SchwarzenbacherHubert Pausch
Feb 23, 2017·Genetics, Selection, Evolution : GSE·Hubert PauschMichael E Goddard
Nov 13, 2014·Animal : an International Journal of Animal Bioscience·C Egger-DannerK F Stock
Jun 3, 2020·ELife·Ismael Lamas-ToranzoPablo Bermejo-Álvarez
Jul 19, 2019·Animals : an Open Access Journal From MDPI·Sihuan ZhangYumin Zhao
Jan 23, 2020·International Journal of Molecular Sciences·Shuwen ShanBertram Brenig
May 13, 2020·Proceedings of the National Academy of Sciences of the United States of America·Taichi NodaMasahito Ikawa
Nov 8, 2018·Heredity·Mei LiuADAPTmap Consortium
Apr 29, 2019·BMC Genomics·Nedenia Bonvino StafuzzaDaniela A Lino Lourenco
Aug 9, 2019·Journal of Animal Science and Biotechnology·Marc LlavaneraMarc Yeste
Apr 3, 2021·International Journal of Molecular Sciences·Fabio PértilleHeriberto Rodriguez-Martinez

Methods Mentioned

BETA
Assay
genotyping
semen collection
chip
PCR

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.

Glut1 Deficiency

Glut1 deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Follow the latest research on Glut1 deficiency with this feed.

Hereditary Sensory Autonomic Neuropathy

Hereditary Sensory Autonomic Neuropathies are a group of inherited neurodegenerative disorders characterized clinically by loss of sensation and autonomic dysfunction. Here is the latest research on these neuropathies.

Separation Anxiety

Separation anxiety is a type of anxiety disorder that involves excessive distress and anxiety with separation. This may include separation from places or people to which they have a strong emotional connection with. It often affects children more than adults. Here is the latest research on separation anxiety.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.