Mapping and characterization of non-HLA multigene assemblages in the human MHC class I region.
Mapping and characterization of non-HLA multigene assemblages in the human MHC class I region.
复制标题
人类 MHC I 类区域非 HLA 多基因组合的定位和表征。
DOI：
10.1006/geno.1994.1382
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发表时间：
1994
期刊：
影响因子：
4.4
通讯作者：
Chorney,MJ
中科院分区：
文献类型：
--
作者：
Venditti,CP;Harris,JM;Geraghty,DE;Chorney,MJ
The major histocompatibility complex (MHC) class I region has been shown to be associated with a variety of immune and nonimmune disorders. In an effort to initiate steps designed to identify the idiopathic hemochromatosis disease gene (HFE), we have cloned and mapped two expressed messages using probes from theHLA-Hsubregion that lie immediately distal to theHLA-A9breakpoint. Although the cDNA clones identify distinct multifragment families that are dispersed throughout the MHC, the gene sequences from which the two cDNA clones derive map centromeric to theHLA-Blocus and are absent from the genomes of higher nonhuman primates. This suggests that a syntenic coding segment arose within a highly polymorphic region (TNFtoHLA-Binterval) as the result of an insertion event following the emergence ofHomo sapiens. An additional syntenic cluster exists within a peak of linkage disequilibrium with the HFE gene and may define coding sequences that underlie the defect in genetic iron overload. These data generally support the concept that the class I region is potentially generich and further highlight the possibility that these new coding sequences may play a role in the development of a variety of HLA-linked diseases. The observations presented suggest that interlocus exchanges have played a structural role in the genesis of the human class I region.
