通过阵列比较基因组杂交对灵长类动物NPHP1基因座处低拷贝重复序列进行拷贝数分析。
Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.
作者信息
Yuan Bo, Liu Pengfei, Rogers Jeffrey, Lupski James R
机构信息
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
出版信息
Genom Data. 2016 Apr 19;8:106-9. doi: 10.1016/j.gdata.2016.04.008. eCollection 2016 Jun.
Array comparative genomic hybridization (aCGH) has been widely used to detect copy number variants (CNVs) in both research and clinical settings. A customizable aCGH platform may greatly facilitate copy number analyses in genomic regions with higher-order complexity, such as low-copy repeats (LCRs). Here we present the aCGH analyses focusing on the 45 kb LCRs [1] at the NPHP1 region with diverse copy numbers in humans. Also, the interspecies aCGH analysis comparing human and nonhuman primates revealed dynamic copy number transitions of the human 45 kb LCR orthologues during primate evolution and therefore shed light on the origin of complexity at this locus. The original aCGH data are available at GEO under GSE73962.
阵列比较基因组杂交（aCGH）已广泛应用于研究和临床环境中检测拷贝数变异（CNV）。一个可定制的aCGH平台可能极大地促进对具有更高阶复杂性的基因组区域（如低拷贝重复序列（LCR））的拷贝数分析。在此，我们展示了针对人类中具有不同拷贝数的NPHP1区域的45 kb LCR进行的aCGH分析。此外，比较人类和非人类灵长类动物的种间aCGH分析揭示了灵长类动物进化过程中人类45 kb LCR直系同源物的动态拷贝数转变，从而阐明了该位点复杂性的起源。原始的aCGH数据可在GEO上获取，登录号为GSE73962。
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