Year: 2011
Type: article
Abstract: As a consequence of the accumulation of insertion events over evolutionary time, mobile elements now comprise nearly half of the human genome. The Alu, L1, and SVA mobile element families are still duplicating, generating variation between individual genomes. Mobile element insertions (MEI) have been identified as causes for genetic diseases, including hemophilia, neurofibromatosis, and various cancers. Here we present a comprehensive map of 7,380 MEI polymorphisms from the 1000 Genomes Project whole-genome sequencing data of 185 samples in three major populations detected with two detection methods. This catalog enables us to systematically study mutation rates, population segregation, genomic distribution, and functional properties of MEI polymorphisms and to compare MEI to SNP variation from the same individuals. Population allele frequencies of MEI and SNPs are described, broadly, by the same neutral ancestral processes despite vastly different mutation mechanisms and rates, except in coding regions where MEI are virtually absent, presumably due to strong negative selection. A direct comparison of MEI and SNP diversity levels suggests a differential mobile element insertion rate among populations.
Source: PLoS Genetics
Authors: Chip Stewart, Deniz Kural, Michael P. Strömberg, Jerilyn A. Walker, Miriam K. Konkel, Adrian M. Stütz, Alexander E. Urban, Fabian Grubert, Hugo Y. K. Lam, Wan-Ping Lee, Michele Busby, Amit R. Indap, Erik Garrison, Chad Huff, Jinchuan Xing, Michael P. Snyder, Lynn B. Jorde, Mark A. Batzer, Jan O. Korbel, Gabor T. Marth, 1000 Genomes Project
Language: English
Subfield: Plant Science
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,043
Awards: Trace Archive and 1KG DCC., G2022454452, High-throughput Mobile Element Genotyping Using Next-generation Sequencing, Population genetics and evolution of mobile elements, Software Tools for Next-Generation Sequencer Data, G5428445882, Modular Software for Sequence Data Quality Checking Alignment & Variant-Calling, G7586117799
OpenAlex ID: W2091687746