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Identifying pathoge...
Identifying pathogenicity of human variants via paralog-based yeast complementation
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- Yang, Fan (författare)
- Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.;Sinai Hlth Syst, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.
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- Sun, Song, 1982- (författare)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.;Sinai Hlth Syst, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.
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- Tan, Guihong (författare)
- Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
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- Costanzo, Michael (författare)
- Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
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- Hill, David E. (författare)
- Dana Farber Canc Inst, CCSB, Boston, MA 02115 USA.;Harvard Med Sch, Dept Genet, Boston, MA USA.
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- Vidal, Marc (författare)
- Dana Farber Canc Inst, CCSB, Boston, MA 02115 USA.;Harvard Med Sch, Dept Genet, Boston, MA USA.
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- Andrews, Brenda J. (författare)
- Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
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- Boone, Charles (författare)
- Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Canadian Inst Adv Res, Toronto, ON, Canada.
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- Roth, Frederick P. (författare)
- Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.;Sinai Hlth Syst, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Dana Farber Canc Inst, CCSB, Boston, MA 02115 USA.;Canadian Inst Adv Res, Toronto, ON, Canada.
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Donnelly Ctr, Toronto, ON, Canada;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.;Sinai Hlth Syst, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada. Institutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)
- 2017-05-25
- 2017
- Engelska.
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Ingår i: PLOS Genetics. - : PUBLIC LIBRARY SCIENCE. - 1553-7390 .- 1553-7404. ; 13:5
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://journals.plo...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- To better understand the health implications of personal genomes, we now face a largely unmet challenge to identify functional variants within disease-associated genes. Functional variants can be identified by trans-species complementation, e.g., by failure to rescue a yeast strain bearing a mutation in an orthologous human gene. Although orthologous complementation assays are powerful predictors of pathogenic variation, they are available for only a few percent of human disease genes. Here we systematically examine the question of whether complementation assays based on paralogy relationships can expand the number of human disease genes with functional variant detection assays. We tested over 1,000 paralogous human-yeast gene pairs for complementation, yielding 34 complementation relationships, of which 33 (97%) were novel. We found that paralog-based assays identified disease variants with success on par with that of orthology-based assays. Combining all homology-based assay results, we found that complementation can often identify pathogenic variants outside the homologous sequence region, presumably because of global effects on protein folding or stability. Within our search space, paralogy-based complementation more than doubled the number of human disease genes with a yeast-based complementation assay for disease variation.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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Yang, Fan
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Sun, Song, 1982-
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Tan, Guihong
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Costanzo, Michae ...
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Hill, David E.
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Vidal, Marc
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visa fler...
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Andrews, Brenda ...
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Boone, Charles
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Roth, Frederick ...
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Uppsala universitet