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121.
Drake JA Bird C Nemesh J Thomas DJ Newton-Cheh C Reymond A Excoffier L Attar H Antonarakis SE Dermitzakis ET Hirschhorn JN 《Nature genetics》2006,38(2):223-227
Noncoding genetic variants are likely to influence human biology and disease, but recognizing functional noncoding variants is difficult. Approximately 3% of noncoding sequence is conserved among distantly related mammals, suggesting that these evolutionarily conserved noncoding regions (CNCs) are selectively constrained and contain functional variation. However, CNCs could also merely represent regions with lower local mutation rates. Here we address this issue and show that CNCs are selectively constrained in humans by analyzing HapMap genotype data. Specifically, new (derived) alleles of SNPs within CNCs are rarer than new alleles in nonconserved regions (P = 3 x 10(-18)), indicating that evolutionary pressure has suppressed CNC-derived allele frequencies. Intronic CNCs and CNCs near genes show greater allele frequency shifts, with magnitudes comparable to those for missense variants. Thus, conserved noncoding variants are more likely to be functional. Allele frequency distributions highlight selectively constrained genomic regions that should be intensively surveyed for functionally important variation. 相似文献
122.
Ballif BC Hornor SA Jenkins E Madan-Khetarpal S Surti U Jackson KE Asamoah A Brock PL Gowans GC Conway RL Graham JM Medne L Zackai EH Shaikh TH Geoghegan J Selzer RR Eis PS Bejjani BA Shaffer LG 《Nature genetics》2007,39(9):1071-1073
We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome. 相似文献