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Báo cáo y học: "Mutation patterns of amino acid tandem repeats in the human proteome"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Mutation patterns of amino acid tandem repeats in the human proteome. | Research Open Access Mutation patterns of amino acid tandem repeats in the human proteome Loris Mularoni Roderic Guig6 and M Mar Albà Addresses Research Unit on Biomedical Informatics Institut Municipal d Investigaci6 Mèdica Universitat Pompeu Fabra Barcelona 08003 Spain. ỶCentre de Regulació Genòmica Barcelona 08003 Spain. Correspondence M MarAlbà. Email malba@imim.es Published 26 April 2006 Genome Biology 2006 7 R33 doi 10.1 186 gb-2006-7-4-r33 The electronic version of this article is the complete one and can be found online at http genomebiology.com 2006 7 4 R33 Received 3 February 2006 Revised 17 March 2006 Accepted 23 March 2006 2006 Mularoni et al. licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Amino acid tandem repeats are found in nearly one-fifth of human proteins. Abnormal expansion of these regions is associated with several human disorders. To gain further insight into the mutational mechanisms that operate in this type of sequence we have analyzed a large number of mutation variants derived from human expressed sequence tags ESTs . Results We identified 137 polymorphic variants in 115 different amino acid tandem repeats. Of these 77 contained amino acid substitutions and 60 contained gaps expansions or contractions of the repeat unit . The analysis showed that at least about 21 of the repeats might be polymorphic in humans. We compared the mutations found in different types of amino acid repeats and in adjacent regions. Overall repeats showed a five-fold increase in the number of gap mutations compared to adjacent regions reflecting the action of slippage within the repetitive structures. Gap and substitution mutations were very differently distributed between different amino acid repeat .