Chromosomal distributions of breakpoints in cancer,infertility, and evolution |
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Authors: | Sankoff David Deneault Melanie Turbis Pascal Allen Chris |
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Institution: | Centre de Recherches Mathématiques, Université de Montréal, CP 6128 succursale Centre-Ville, Montréal, Québec, Canada H3C 3J7. |
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Abstract: | We extract 11 genome-wide sets of breakpoint positions from databases on reciprocal translocations, inversions and deletions in neoplasms, reciprocal translocations and inversions in families carrying rearrangements and the human-mouse comparative map, and for each set of positions construct breakpoint distributions for the 44 autosomal arms. We identify and interpret four main types of distribution: (i) a uniform distribution associated both with families carrying translocations or inversions, and with the comparative map, (ii) telomerically skewed distributions of translocations or inversions detected consequent to births with malformations, (iii) medially clustered distributions of translocation and deletion breakpoints in tumor karyotypes, and (iv) bimodal translocation breakpoint distributions for chromosome arms containing telomeric proto-oncogenes. |
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Keywords: | genome rearrangement chromosome aberrations translocation inversion Nadeau– Taylor hypothesis |
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