Batzer and Deininger 2002 Nature Reviews Genetics

The human diseases caused by alu insertions include

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Unformatted text preview: ns.org/geneticorigins/pv92/aluframeset.htm Genetic Information Research Institute: http://www.girinst.org/index.html 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 http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=174 albumin http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=213 CMP-N-acetylneuraminic acid hydroxylase http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=8418 frataxin http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2395 TP53 http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7157 OMIM α-thalassaemia http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?141800 acute myelogenous leukaemia http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601626 Apert syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?101200 breast cancer http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?114480 C3 deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?120700 cholinesterase deficiency http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400 complement deficiency http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106100 Ewing sarcoma http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?603259 familial hypercholesterolaemia http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?143890 Friedreich ataxia http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?229300 haemophilia http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?306700 insulin-resistant diabetes type II http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?125853 Lesch–Nyhan syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300322 neurofibromatosis http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?162200 Tay–Sachs disease http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?272800 © 2002 Nature Publishing Group...
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