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  A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., 1000 Genomes Project, C., Sudbrak, R., Albrecht, M. W., et al. (2012). A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes. Science, 335(6070), 823-828. doi:10.1126/science.1215040.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-002D-46B0-B Version Permalink: https://hdl.handle.net/11858/00-001M-0000-002D-46B1-9
Genre: Journal Article

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© 2012 American Association for the Advancement of Science
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MacArthur, D. G. , Author
Balasubramanian, S., Author
Frankish, A. , Author
1000 Genomes Project, Consortium, Author
Sudbrak, R.1, Author           
Albrecht , M. W., Author
Amstislavskiy, V.2, Author           
Borodina, T. A.3, Author           
Dahl, Andreas1, Author           
Davydov, A.3, Author           
Herwig, R.4, Author           
Marquardt, P.5, Author           
Mertes, F.1, Author           
Nietfeld, W.1, Author           
Parkhomchuk, D.1, Author           
Soldatov, A.3, Author           
Timmermann, B.6, Author           
Tolzmann, M.5, Author           
Lehrach, H.1, Author           
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
2Gene Regulation and Systems Biology of Cancer (Marie-Laure Yaspo), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2117287              
3Technology Development(Alexey Soldatov), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479657              
4Bioinformatics (Ralf Herwig), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479648              
5Computing (Head: Donald Buczek/Peter Marquardt), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479667              
6Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479670              

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 Abstract: Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~100 genuine LoF variants with ~20 genes completely inactivated. We identify rare and likely deleterious LoF alleles, including 26 known and 21 predicted severe disease – causing variants, as well as common LoF variants in nonessential genes. We describe functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize ca ndidate genes found in clinical sequencing studies

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Language(s): eng - English
 Dates: 2012-02-17
 Publication Status: Issued
 Pages: 6
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1126/science.1215040
 Degree: -

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Title: Science
Source Genre: Journal
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Publ. Info: Washington, D.C. : American Association for the Advancement of Science
Pages: - Volume / Issue: 335 (6070) Sequence Number: - Start / End Page: 823 - 828 Identifier: ISSN: 0036-8075
CoNE: https://pure.mpg.de/cone/journals/resource/991042748276600_1