Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Export

@article{citeulike:2175469, abstract = {Meiotic recombination between highly similar duplicated sequences (nonallelic homologous recombination, NAHR) generates deletions, duplications, inversions and translocations, and it is responsible for genetic diseases known as 'genomic disorders', most of which are caused by altered copy number of dosage-sensitive genes. NAHR hot spots have been identified within some duplicated sequences. We have developed sperm-based assays to measure the de novo rate of reciprocal deletions and duplications at four NAHR hot spots. We used these assays to dissect the relative rates of NAHR between different pairs of duplicated sequences. We show that (i) these NAHR hot spots are specific to meiosis, (ii) deletions are generated at a higher rate than their reciprocal duplications in the male germline and (iii) some of these genomic disorders are likely to have been underascertained clinically, most notably that resulting from the duplication of 7q11, the reciprocal of the deletion causing Williams-Beuren syndrome.}, author = {Turner, Daniel J. and Miretti, Marcos and Rajan, Diana and Fiegler, Heike and Carter, Nigel P. and Blayney, Martyn L. and Beck, Stephan and Hurles, Matthew E.}, citeulike-article-id = {2175469}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/ng.2007.40}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/18059269}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=18059269}, day = {02}, doi = {10.1038/ng.2007.40}, issn = {1546-1718}, journal = {Nature genetics}, keywords = {aberration, hotspot, meiosis}, month = {January}, number = {1}, pages = {90--95}, posted-at = {2008-01-07 12:10:23}, priority = {2}, publisher = {Nature Publishing Group}, title = {Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.}, url = {http://dx.doi.org/10.1038/ng.2007.40}, volume = {40}, year = {2008} }

TY - JOUR ID - citeulike:2175469 L3 - citeulike-article-id:2175469 N2 - Meiotic recombination between highly similar duplicated sequences (nonallelic homologous recombination, NAHR) generates deletions, duplications, inversions and translocations, and it is responsible for genetic diseases known as 'genomic disorders', most of which are caused by altered copy number of dosage-sensitive genes. NAHR hot spots have been identified within some duplicated sequences. We have developed sperm-based assays to measure the de novo rate of reciprocal deletions and duplications at four NAHR hot spots. We used these assays to dissect the relative rates of NAHR between different pairs of duplicated sequences. We show that (i) these NAHR hot spots are specific to meiosis, (ii) deletions are generated at a higher rate than their reciprocal duplications in the male germline and (iii) some of these genomic disorders are likely to have been underascertained clinically, most notably that resulting from the duplication of 7q11, the reciprocal of the deletion causing Williams-Beuren syndrome. IS - 1 JF - Nature genetics SN - 1546-1718 EP - 95 TI - Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. PB - Nature Publishing Group VL - 40 SP - 90 KW - aberration KW - hotspot KW - meiosis AU - Turner, Daniel AU - Miretti, Marcos AU - Rajan, Diana AU - Fiegler, Heike AU - Carter, Nigel AU - Blayney, Martyn AU - Beck, Stephan AU - Hurles, Matthew PY - 2008/01/02/ UR - http://dx.doi.org/10.1038/ng.2007.40 ER -