A comprehensive survey of human polymorphisms at conserved splice dinucleotides and its evolutionary relationship with alternative splicing |
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| Authors: | Makoto K Shimada Yosuke Hayakawa Jun-ichi Takeda Takashi Gojobori Tadashi Imanishi |
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| Affiliation: | (1) Biomedicinal Information Research Center, National Institute of Advanced Industrial Science and Technology, 2-42 Aomi Koto-ku, 135-0064 Tokyo, Japan;(2) Japan Biological Informatics Consortium, 10F TIME24 Building, 2-45 Aomi, Koto-ku, 135-0064 Tokyo, Japan;(3) Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, 470-1192 Aichi, Japan;(4) Hitachi Software Engineering Co., Ltd., 1-1-43 Suehirocho, Tsurumi-ku, 230-0045 Yokohama, Japan;(5) Center for Information Biology and DNA Data Bank of Japan, National Institute of Genetics, 1111 Yata, Mishima, 411-8540 Shizuoka, Japan |
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| Abstract: | Background Alternative splicing (AS) is a key molecular process that endows biological functions with diversity and complexity. Generally, functional redundancy leads to the generation of new functions through relaxation of selective pressure in evolution, as exemplified by duplicated genes. It is also known that alternatively spliced exons (ASEs) are subject to relaxed selective pressure. Within consensus sequences at the splice junctions, the most conserved sites are dinucleotides at both ends of introns (splice dinucleotides). However, a small number of single nucleotide polymorphisms (SNPs) occur at splice dinucleotides. An intriguing question relating to the evolution of AS diversity is whether mutations at splice dinucleotides are maintained as polymorphisms and produce diversity in splice patterns within the human population. We therefore surveyed validated SNPs in the database dbSNP located at splice dinucleotides of all human genes that are defined by the H-Invitational Database. |
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