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
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
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DOI：
10.1006/geno.1996.0328
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发表时间：
1996-07-01
期刊：
影响因子：
4.4
通讯作者：
Fisher, EMC
中科院分区：
文献类型：
--
作者：
Katsanis, N;Fitzgibbon, J;Fisher, EMC
人类基因组包含一组基因家族，其成员分布在染色体1、6和9的相同区域内。所涉及的基因家族的数量和它们明显聚集在基因组的相同区域表明它们的映射关系是非随机的。通过结合基因家族的映射数据和序列信息，我们已经确定这些序列是跨越几个兆碱基的大区域的一部分。该区域存在于三个拷贝中：人类1号染色体的长臂，6号染色体的短臂和9号染色体的长臂。我们已经表征了所涉及的两个基因家族的遗传变异，并提出了创建这三个区域的进化路线。我们的分析使我们预测并证明了两个基因座的存在，6号染色体上的PBX基因座和1号染色体上的NOTCH基因座。这个三重区域的发现增加了我们对人类基因组进化的理解，并可能对基因定位预测和分离新基因家族成员和未克隆疾病位点的新方法具有相当大的实际意义。(C)出版社：Academic Press，Inc.
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.