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Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.

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Title: Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.
Authors: Jacinto, Joana G.P.1,2 (AUTHOR), Letko, Anna1 (AUTHOR), Häfliger, Irene M.1 (AUTHOR), Akyürek, Eylem Emek3 (AUTHOR), Sacchetto, Roberta3 (AUTHOR), Gentile, Arcangelo4 (AUTHOR), Drögemüller, Cord1 (AUTHOR) cord.droegemueller@unibe.ch
Source: Scientific Reports. 12/28/2024, Vol. 14 Issue 1, p1-14. 14p.
Subject Terms: *GENETIC variation, *LIFE sciences, *HOLSTEIN-Friesian cattle, *WHOLE genome sequencing, *MONOGENIC & polygenic inheritance (Genetics)
Abstract: Bovine spastic syndrome (SS) is a progressive, adult-onset neuromuscular disorder (NMD). SS is inherited but the mode of inheritance is unclear. The aim of this study was to characterize the phenotype and to identify a possible genetic cause of SS by whole-genome sequencing (WGS) and focusing on protein-changing variants. Seven affected unrelated Holstein cattle of both sexes were referred for SS at a mean age of 5.3 years (S.D.±1.1) showing intermittent spasm of the skeletal muscles of the pelvic girdle. Assuming monogenic recessive inheritance, analysis of the WGS data did not reveal any private variants common to all cases. Searching for homozygous rare variants considering each case individually, allowed the identification of a rare recessive likely pathogenic missense variant in TOR3A for one case with an allele frequency of 1.69% in a global Holstein population. In the remaining six SS cases, we identified seven potentially dominant de novo mutations or inherited alleles as private heterozygous, mostly missense, variants of uncertain significance involving seven different NMD candidate genes: MPEG1, LHX8, WHAMM, NGRN, TTN, ATP1A1, PCDH1. All eight candidate causal variants identified were predicted to be deleterious. This study describes for the first time WGS findings in confirmed cases of bovine SS and provides evidence for a heterogeneous genetic cause of SS in cattle. [ABSTRACT FROM AUTHOR]
Copyright of Scientific Reports is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.
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  Data: *<searchLink fieldCode="DE" term="%22GENETIC+variation%22">GENETIC variation</searchLink><br />*<searchLink fieldCode="DE" term="%22LIFE+sciences%22">LIFE sciences</searchLink><br />*<searchLink fieldCode="DE" term="%22HOLSTEIN-Friesian+cattle%22">HOLSTEIN-Friesian cattle</searchLink><br />*<searchLink fieldCode="DE" term="%22WHOLE+genome+sequencing%22">WHOLE genome sequencing</searchLink><br />*<searchLink fieldCode="DE" term="%22MONOGENIC+%26+polygenic+inheritance+%28Genetics%29%22">MONOGENIC & polygenic inheritance (Genetics)</searchLink>
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  Data: Bovine spastic syndrome (SS) is a progressive, adult-onset neuromuscular disorder (NMD). SS is inherited but the mode of inheritance is unclear. The aim of this study was to characterize the phenotype and to identify a possible genetic cause of SS by whole-genome sequencing (WGS) and focusing on protein-changing variants. Seven affected unrelated Holstein cattle of both sexes were referred for SS at a mean age of 5.3 years (S.D.±1.1) showing intermittent spasm of the skeletal muscles of the pelvic girdle. Assuming monogenic recessive inheritance, analysis of the WGS data did not reveal any private variants common to all cases. Searching for homozygous rare variants considering each case individually, allowed the identification of a rare recessive likely pathogenic missense variant in TOR3A for one case with an allele frequency of 1.69% in a global Holstein population. In the remaining six SS cases, we identified seven potentially dominant de novo mutations or inherited alleles as private heterozygous, mostly missense, variants of uncertain significance involving seven different NMD candidate genes: MPEG1, LHX8, WHAMM, NGRN, TTN, ATP1A1, PCDH1. All eight candidate causal variants identified were predicted to be deleterious. This study describes for the first time WGS findings in confirmed cases of bovine SS and provides evidence for a heterogeneous genetic cause of SS in cattle. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Scientific Reports is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: 12/28/2024
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