Home » Comparative and functional genomics study of the telomeric 7.73-Mb region from marker D22S418 through D22S1726 on human chromosome 22. by Hung-Chun Yu
Comparative and functional genomics study of the telomeric 7.73-Mb region from marker D22S418 through D22S1726 on human chromosome 22. Hung-Chun Yu

Comparative and functional genomics study of the telomeric 7.73-Mb region from marker D22S418 through D22S1726 on human chromosome 22.

Hung-Chun Yu

Published
ISBN : 9780549576495
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170 pages
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The telomeric 7.7-Mb region of human chromosome 22 has three distinct regions, the proximal gene-rich, middle gene-poor and distal extremely gene-rich regions, that differ in their gene density, number of CpG islands and GC content. ComparativeMoreThe telomeric 7.7-Mb region of human chromosome 22 has three distinct regions, the proximal gene-rich, middle gene-poor and distal extremely gene-rich regions, that differ in their gene density, number of CpG islands and GC content. Comparative genomics studies of syntenic sequences of human and chimpanzee revealed that this 7.7-Mb region are highly conserved at 98.4% with the major differences being the number of repetitive elements, two large duplications in chimpanzee, and two non-functional pseudogenes in chimpanzee. Such differences likely cause phenotypic changes that include lipid metabolism, higher susceptibility to HIV and Alzheimers disease, and jaw muscle construction. The coding sequences of human and chimpanzee show a bias that favors transitional substitution in addition to the aforementioned insertions and deletions. In addition, Ka/Ks studies reveal that the duplicated genes are under strong purifying selection to maintain the original function in the resulting gene families.-In functional studies via in situ hybridization profiling in zebrafish, twenty-nine genes in the telomeric 7.7-Mb region are expressed ubiquitously while four of these genes show tissue-specific expression. Additional ISH profiling of three previously unknown, novel genes supports their tissue-specific expression and their possible roles in either hypothalamus, kidney or gill development.