Batzer and Deininger 2002 Nature Reviews Genetics

The human diseases caused by alu insertions include

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Unformatted text preview: Genetic Information Research Institute: Access to this interactive links box is free online. 86. 87. 88. 89. 90. N ATURE REVIEWS | GENETICS VOLUME 3 | MAY 2002 | 3 7 9 © 2002 Nature Publishing Group ONLINE • Alu elements are a class of short interspersed elements (SINEs) that have expanded to a copy number of more than one million elements in primate genomes. • The expansion of Alu elements is characterized by the dispersal, in a series of subfamilies, of elements of different evolutionary age that share common nucleotide substitutions. • Alu elements have an impact on the genome in several ways, including insertion mutations, recombination between elements, gene conversion and gene expression. • The human diseases caused by Alu insertions include neurofibromatosis, haemophilia, familial hypercholesterolaemia, breast cancer, insulinresistant diabetes type II and Ewing sarcoma. • Alu elements alter the distribution of methylation and, possibly, transcription of genes throughout the genome. • The transcription of Alu elements changes in response to cellular stress and might be involved in maintaining or regulating the cellular stress response. • Alu elements are a primary source for the origin of simple sequence repeats in primate genomes. • Alu-insertion polymorphisms are a boon for the study of human population genetics and primate comparative genomics because they are neutral, identical-by-descent genetic markers with known ancestral states. Mark Batzer received his Ph.D. from the laboratory of William R. Lee at Louisiana State University (LSU), USA. He carried out postdoctoral studies with Prescott Deininger at LSU Health Sciences Center, and then with Pieter de Jong in the Human Genome Center at Lawrence Livermore National Laboratory. He became a staff scientist at Lawrence Livermore National Laboratory and then assumed a faculty position in the Department of Pathology at the LSU Health Sciences Center in 1995. He subsequently accepted a position as Professor of Biological Sciences at LSU in 2001. His laboratory focuses on comparative genomics, population genetics, human molecular genetics and the contribution of mobile elements to genomic diversity. Prescott Deininger received his Ph.D. from the laboratory of Carl Schmid at University of California (UC), Davis, USA. He carried out postdoctoral studies with Theodore Friedmann at UC, San Diego, and then with Frederic Sanger at the Medical Research Council in Cambridge, UK. He assumed a faculty position at LSU Health Sciences Center in 1981 and moved to a position as Associate Director of the Tulane Cancer Center in 1998. He holds the Marguerite Main Zimmerman Chair in Basic Cancer Research and is Professor of Environmental Health Sciences at the Tulane University Health Sciences Center. His laboratory focuses on the mechanism and impact of mobile elements, particularly SINEs, which cause instability of the mammalian genome. URLs Databases LocusLink α-fetoprotein albumin CMP-N-acetylneuraminic acid hydroxylase frataxin TP53 OMIM α-thalassaemia acute myelogenous leukaemia Apert syndrome breast cancer C3 deficiency cholinesterase deficiency complement deficiency Ewing sarcoma familial hypercholesterolaemia Friedreich ataxia haemophilia insulin-resistant diabetes type II Lesch–Nyhan syndrome neurofibromatosis Tay–Sachs disease © 2002 Nature Publishing Group...
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