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Title 

UbC gene allele frequency in Korean population and novel UbC mosaic repeat unit formation

Authors 

Ryong Nam KimAram KangSang-Haeng ChoiDae Soo KimDong-Wook KimS H NamAeri KimKun Hyang ParkByung-Ha YoonK S LeeHong-Seog Park

Publisher 

The Genetics Society of Korea

Issue Date 

2012

Citation 

Genes & Genomics, vol. 34, no. 4, pp. 415-422

Keywords 

Korean populationNovel UbC mosaic repeat unitUbC gene allele frequency

Abstract 

The genomic structural organization of human UbC CDS repeat units could be representative of concerted evolution. The structure of the UbC gene and its repeat unit number frequency at scales of different human ethnic populations remain to be sufficiently determined. In this study, we performed comparative analysis of UbC CDS regions in genomes from 140 Korean individuals. We found that the UbC gene allele types 9, 8 and 7 are present in the Korean population in proportions of 97.1%, 0.4% and 2.5%, respectively. Interestingly, we discovered that the allele types 7 and 8 harbor the novel UbC gene mosaic repeat units 3∧5 (combined between sequence parts derived from standard repeat units 3 and 5) and 8∧9 (combined between sequence parts derived from standard repeat units 8 and 9) within their sequence structures, respectively. Our analysis showed that the novel mosaic repeat unit 3^5 lacks the highly human-specific amino acid S38, implying a functional consequence. These results suggest that the genomic organization of UbC repeat units is still undergoing dynamic structural changes due to concerted evolution through unequal crossing-over. Our results could represent valuable data for future investigations related to treating genetic diseases caused by UbC gene mutations and variations.

ISSN 

1976-9571

Link 

http://dx.doi.org/10.1007/s13258-011-0237-4

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2017-04-19


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