Characterization of the segmental duplication LCR7-20 in the human genome

Xiangdong Liu, Xiaobin Li, Martin Li, Yugo J. Acimovic, Zhenzhong Li, Stephen W. Scherer, Xavier P. Estivill, Lap Chee Tsui

Research output: Contribution to journalArticle

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Abstract

Our previous study described the amplification of a genomic sequence containing exon 9 of CFTR in the human genome. Here we report that this CFTR sequence is part of a large duplicated sequence unit, provisionally named LCR7-20. Through successive screening of two human chromosome 7-specific cosmid libraries to construct a cosmid contig, we assembled two sequenced BAC clones into a single contig containing a prototypic LCR7-20 unit. Subsequent searches of existing human genome sequences identified additional six copies of LCR7-20-like sequences with more than 90% sequence homology. Additional genomic clones containing LCR7-20-like sequences were then isolated from total genomic BAC and PAC libraries. Restriction fragment analysis and limited sequencing data indicated that there could be around 30 copies of LCR7-20-like sequences in the human genome and that the average region of homology could extend over 120 kb. As indicated by fluorescence in situ hybridization analysis, LCR7-20-like sequences are dispersed on different chromosomes, mainly in the centromeric and pericentromeric regions, and some may exist in tandem copies. Our study also indicates that many genomic regions containing LCR7-20's either have been misassembled or are missing in current versions of the human genome sequence.

Original languageEnglish
Pages (from-to)262-269
Number of pages8
JournalGenomics
Volume83
Issue number2
DOIs
Publication statusPublished - Feb 2004
Externally publishedYes

Fingerprint

Genomic Segmental Duplications
Human Genome
Cosmids
Clone Cells
Chromosomes, Human, Pair 7
Human Chromosomes
Sequence Homology
Fluorescence In Situ Hybridization
Libraries
Exons
Chromosomes

ASJC Scopus subject areas

  • Genetics

Cite this

Liu, X., Li, X., Li, M., Acimovic, Y. J., Li, Z., Scherer, S. W., ... Tsui, L. C. (2004). Characterization of the segmental duplication LCR7-20 in the human genome. Genomics, 83(2), 262-269. https://doi.org/10.1016/j.ygeno.2003.08.003

Characterization of the segmental duplication LCR7-20 in the human genome. / Liu, Xiangdong; Li, Xiaobin; Li, Martin; Acimovic, Yugo J.; Li, Zhenzhong; Scherer, Stephen W.; Estivill, Xavier P.; Tsui, Lap Chee.

In: Genomics, Vol. 83, No. 2, 02.2004, p. 262-269.

Research output: Contribution to journalArticle

Liu, X, Li, X, Li, M, Acimovic, YJ, Li, Z, Scherer, SW, Estivill, XP & Tsui, LC 2004, 'Characterization of the segmental duplication LCR7-20 in the human genome', Genomics, vol. 83, no. 2, pp. 262-269. https://doi.org/10.1016/j.ygeno.2003.08.003
Liu X, Li X, Li M, Acimovic YJ, Li Z, Scherer SW et al. Characterization of the segmental duplication LCR7-20 in the human genome. Genomics. 2004 Feb;83(2):262-269. https://doi.org/10.1016/j.ygeno.2003.08.003
Liu, Xiangdong ; Li, Xiaobin ; Li, Martin ; Acimovic, Yugo J. ; Li, Zhenzhong ; Scherer, Stephen W. ; Estivill, Xavier P. ; Tsui, Lap Chee. / Characterization of the segmental duplication LCR7-20 in the human genome. In: Genomics. 2004 ; Vol. 83, No. 2. pp. 262-269.
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