Paralogy mapping: Identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci

被引:136
作者
Katsanis, N
Fitzgibbon, J
Fisher, EMC
机构
[1] UNIV LONDON IMPERIAL COLL SCI TECHNOL & MED, NEUROGENET UNIT, LONDON W2 1PG, ENGLAND
[2] UNIV LONDON IMPERIAL COLL SCI TECHNOL & MED, DEPT BIOCHEM & MOLEC GENET, LONDON W2 1PG, ENGLAND
[3] INST OPHTHALMOL, DEPT MOLEC GENET, LONDON EC1V 9EL, ENGLAND
关键词
D O I
10.1006/geno.1996.0328
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
The human genome contains a group of gene families whose members map within the same regions of chromosomes 1, 6, and 9. The number of gene families involved and their pronounced clustering to the same areas of the genome indicate that their mapping relationship is nonrandom. By combining mapping data and sequence information for the gene families, we have determined that these sequences are part of a large region that spans several megabases. This region is present in three copies: on the long arm of human chromosome 1, the short arm of chromosome 6, and the long arm of chromosome 9. We have characterized the phylogenesis of two of the gene families involved and propose an evolutionary route for the creation of the three regions, Our analysis led us to predict and demonstrate the presence of two loci, a PBX locus on chromosome 6 and a NOTCH locus on chromosome 1. The discovery of this triplicated region increases our understanding of the evolution of the human genome and may have considerable practical implications for gene mapping prediction and novel approaches to isolating new gene family members and uncloned disease loci. (C) 1996 Academic Press, Inc.
引用
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页码:101 / 108
页数:8
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