A Strategy for Cloning the Hereditary Hemochromatosis Gene

Beutler, Ernest; West, Carol; Kühl, W; Lee, Pauline

doi:10.1006/bcmd.1995.0024

Cited by 8 publications

(2 citation statements)

References 6 publications

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“…Hemochromatosis ancestral haplotypes in Australians extended telomeric of HLA-A as far as D6S105 [34]. Yeast artificial chromosome LD5–1 hybridized with the hemochromatosis gene [35].…”

Section: Hfe Mapping and Cloningmentioning

confidence: 99%

HFE gene: Structure, function, mutations, and associated iron abnormalities

Barton

Edwards

Acton

2015

Gene

111

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The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical and pathologic manifestations of hemochromatosis were reported. Linked to the major histocompatibility complex (MHC) on chromosome 6p, HFE encodes the MHC class I-like protein HFE that binds beta-2 microglobulin. HFE influences iron absorption by modulating the expression of hepcidin, the main controller of iron metabolism. Common HFE mutations account for ~90% of hemochromatosis phenotypes in whites of western European descent. We review HFE mapping and cloning, structure, promoters and controllers, and coding region mutations, HFE protein structure, cell and tissue expression and function, mouse Hfe knockouts and knockins, and HFE mutations in other mammals with iron overload. We describe the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload.

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“…Hemochromatosis ancestral haplotypes in Australians extended telomeric of HLA-A as far as D6S105 [34]. Yeast artificial chromosome LD5–1 hybridized with the hemochromatosis gene [35].…”

Section: Hfe Mapping and Cloningmentioning

confidence: 99%

HFE gene: Structure, function, mutations, and associated iron abnormalities

Barton

Edwards

Acton

2015

Gene

111

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“…29,38 Three of these, ZNF184, ZNF165, and LD5 have been shown to be predominantly expressed in the testis 7,38,39 and two, F20 and F36, have strong homology with the murine ZNF genes, Zfp-38, Zfp-92, and Zfp-35, known to have a role in spermatogenesis. [40][41][42] The location and expression of the ZNF genes identified here correlate well with those from analyses of the syntenic region of the mouse which have shown the presence of a cluster of ZNF genes involved in embryogenesis and spermatogenesis.…”

Section: Znf Gene Clustermentioning

confidence: 99%

Generation of a transcription map distal to HLA-F

et al. 1998

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We have constructed a transcription map covering a 2 Mb region beginning approximately 1 Mb distal to HLA-F. Cosmids isolated from a chromosome 6 library were positioned by YAC hybridisation, STS and fingerprint analysis. Using direct cDNA selection, exon trapping, and direct genomic sequence analysis, we identified 42 potential exonic fragments in this region. Six fragments corresponded to previously characterised genes, four previously broadly mapped to this region. Five fragments were similar to known genes, eight fragments matched ESTs and 10 of the remaining 23 novel fragments, gave a positive signal on northern analysis. All cDNA fragments were mapped to the YAC and cosmid contig covering the region and with respect to other known genes and STS in this area. The distribution of the cDNA fragments indicated their organisation in three clusters around CpG islands.

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