Show simple item record

dc.contributor.author
Nosková, Adéla
dc.contributor.author
Hiltpold, Maya
dc.contributor.author
Janett, Fredi
dc.contributor.author
Echtermann, Thomas
dc.contributor.author
Fang, Zih-Hua
dc.contributor.author
Sidler, Xaver
dc.contributor.author
Selige, Christin
dc.contributor.author
Hofer, Andreas
dc.contributor.author
Neuenschwander, Stefan
dc.contributor.author
Pausch, Hubert
dc.date.accessioned
2021-02-24T14:38:20Z
dc.date.available
2021-02-01T16:18:34Z
dc.date.available
2021-02-24T14:38:20Z
dc.date.issued
2021-02
dc.identifier.issn
1943-2631
dc.identifier.other
10.1093/genetics/iyaa033
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/467161
dc.description.abstract
Artificial insemination in pig (Sus scrofa domesticus) breeding involves the evaluation of the semen quality of breeding boars. Ejaculates that fulfill predefined quality requirements are processed, diluted and used for inseminations. Within short time, eight Swiss Large White boars producing immotile sperm that had multiple morphological abnormalities of the sperm flagella were noticed at a semen collection center. The eight boars were inbred on a common ancestor suggesting that the novel sperm flagella defect is a recessive trait. Transmission electron microscopy cross-sections revealed that the immotile sperm had disorganized flagellar axonemes. Haplotype-based association testing involving microarray-derived genotypes at 41,094 SNPs of six affected and 100 fertile boars yielded strong association (P = 4.22 × 10−15) at chromosome 12. Autozygosity mapping enabled us to pinpoint the causal mutation on a 1.11 Mb haplotype located between 3,473,632 and 4,587,759 bp. The haplotype carries an intronic 13-bp deletion (Chr12:3,556,401–3,556,414 bp) that is compatible with recessive inheritance. The 13-bp deletion excises the polypyrimidine tract upstream exon 56 of DNAH17 (XM_021066525.1: c.8510–17_8510–5del) encoding dynein axonemal heavy chain 17. Transcriptome analysis of the testis of two affected boars revealed that the loss of the polypyrimidine tract causes exon skipping which results in the in-frame loss of 89 amino acids from DNAH17. Disruption of DNAH17 impairs the assembly of the flagellar axoneme and manifests in multiple morphological abnormalities of the sperm flagella. Direct gene testing may now be implemented to monitor the defective allele in the Swiss Large White population and prevent the frequent manifestation of a sterilizing sperm tail disorder in breeding boars.
en_US
dc.language.iso
en
en_US
dc.publisher
Oxford University Press
en_US
dc.subject
Sperm flagella defect
en_US
dc.subject
Impaired male fertility
en_US
dc.subject
Polypyrimidine tract
en_US
dc.subject
Exon skipping
en_US
dc.subject
Genetic disorder
en_US
dc.subject
Genetics of Sex
en_US
dc.title
Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing
en_US
dc.type
Journal Article
dc.date.published
2020-12-18
ethz.journal.title
Genetics
ethz.journal.volume
217
en_US
ethz.journal.issue
2
en_US
ethz.pages.start
iyaa033
en_US
ethz.size
12 p.
en_US
ethz.identifier.wos
ethz.identifier.scopus
ethz.publication.place
Oxford
en_US
ethz.publication.status
published
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences::09575 - Pausch, Hubert / Pausch, Hubert
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences::08690 - Einheit Tiergenetik
en_US
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences::09575 - Pausch, Hubert / Pausch, Hubert
en_US
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences::08690 - Einheit Tiergenetik
ethz.date.deposited
2021-02-01T16:18:45Z
ethz.source
FORM
ethz.eth
yes
en_US
ethz.availability
Metadata only
en_US
ethz.rosetta.installDate
2021-02-24T14:38:31Z
ethz.rosetta.lastUpdated
2022-03-29T05:26:07Z
ethz.rosetta.exportRequired
true
ethz.rosetta.versionExported
true
ethz.COinS
ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.atitle=Infertility%20due%20to%20defective%20sperm%20flagella%20caused%20by%20an%20intronic%20deletion%20in%20DNAH17%20that%20perturbs%20splicing&rft.jtitle=Genetics&rft.date=2021-02&rft.volume=217&rft.issue=2&rft.spage=iyaa033&rft.issn=1943-2631&rft.au=Noskov%C3%A1,%20Ad%C3%A9la&Hiltpold,%20Maya&Janett,%20Fredi&Echtermann,%20Thomas&Fang,%20Zih-Hua&rft.genre=article&rft_id=info:doi/10.1093/genetics/iyaa033&
 Search print copy at ETH Library

Files in this item

FilesSizeFormatOpen in viewer

There are no files associated with this item.

Publication type

Show simple item record