Health and population effects of rare gene knockouts in adult humans with related parents
Autor: | Kenneth Paigen, John Wright, Rosie McEachan, Eamonn Sheridan, Dan Mason, Yali Xue, Laura Southgate, Richard C. Trembath, Konrad J. Karczewski, Anne H. O’Donnell-Luria, Monkol Lek, Kristina Giorda, David A. van Heel, Srikanth Bellary, Chris Tyler-Smith, Mark G. Thomas, Louise Tee, Vagheesh M. Narasimhan, Michael Schnall-Levin, Shane A. McCarthy, Eamonn R. Maher, Jia Zhilong, Hajrah A. Khawaja, Harry Hemingway, Christopher M. Bates, Christopher L. Baker, Ann M. Kelly, Petko M. Petkov, Daniel G. MacArthur, Nicholas A. Bockett, Constantinos A. Parisinos, Anthony H. Barnett, Karen A. Hunt, Richard Durbin, Chris Griffiths, Michael R. Barnes |
---|---|
Rok vydání: | 2016 |
Předmět: | |
Zdroj: | Science. 352:474-477 |
ISSN: | 1095-9203 0036-8075 |
Popis: | Rare gene knockouts in adult humans On average, most people's genomes contain approximately 100 completely nonfunctional genes. These loss-of-function (LOF) mutations tend to be rare and/or occur only as a single copy within individuals. Narasimhan et al. investigated LOF in a Pakistani population with high levels of consanguinity. Examining LOF alleles that were identical by descent, they found, as expected, an absence of homozygote LOF for certain protein-coding genes. However, they also identified many homozygote LOF alleles with no apparent deleterious phenotype, including some that were expected to confer genetic disease. Indeed, one family had lost the recombination-associated gene PRDM9 . Science , this issue p. 474 |
Databáze: | OpenAIRE |
Externí odkaz: |