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:	0301 basic medicine Genetics education.field_of_study Multidisciplinary Population Biology Genome 3. Good health 03 medical and health sciences 030104 developmental biology Gene Knockout Techniques education Gene Exome Gene knockout PRDM9 Exome sequencing
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:	https://explore.openaire.eu/search/publication?articleId=doi_________::329edb47570eee0a17f6ad1922551549 https://doi.org/10.1126/science.aac8624 Zobrazit plný text záznamu Plný text ve formátu PDF