Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE)

Gruen, Jeffrey R.; Goei, Vita Lan-Ing; Summers, Kim M.; Capossela, Angela; Powell, Lawrie W.; Halliday, June W.; Zoghbi, Huda Y.; Shukla, Hridayabhiranjan; Weissman, Sherman M.

doi:10.1016/s0888-7543(05)80211-3

Cited by 23 publications

(5 citation statements)

References 29 publications

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“…Based on the size of the YACs and their overlaps, the HLA-E to HLA-C region appears to be about 800 kb, in agreement with genomic mapping efforts (Gruen et al, 1992). In total, the region covered by the YACs and BACs shown in Fig.…”

Section: Discussionsupporting

confidence: 82%

The Human Major Histocompatibility Complex: 42,221 bp of Genomic Sequence, High-Density Sequence-Tagged Site Map, Evolution, and Polymorphism for HLA Class I

Janer

Geraghty

1998

Genomics

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Section: Discussionsupporting

confidence: 82%

The Human Major Histocompatibility Complex: 42,221 bp of Genomic Sequence, High-Density Sequence-Tagged Site Map, Evolution, and Polymorphism for HLA Class I

Janer

Geraghty

1998

Genomics

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“…The markers and their relative physical locations are shown in figure 1. Physical distances between HLA class I markers are based on estimates from published data (Carroll et al 1987;Lawrance et al 1987;Geraghty et al 1992;Gruen et al 1992; Abderrahim et al 1994). Physical placement of other markers is based on information derived from Southern analysis of contiguous YACs (data not shown) and on published data (Feder et al 1996).…”

Section: Characterization Of Markersmentioning

confidence: 99%

Haplotype Analysis of Hemochromatosis: Evaluation of Different Linkage-Disequilibrium Approaches and Evolution of Disease Chromosomes

Ajioka

Jorde

Gruen

et al. 1997

The American Journal of Human Genetics

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109

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We applied several types of linkage-disequilibrium calculations to analyze the hereditary hemochromatosis (hh) locus. Twenty-four polymorphic markers in the major histocompatibility complex (MHC) class I region were used to haplotype hh and normal chromosomes. A total of 169 hh and 161 normal chromosomes were analyzed. Disequilibrium values were found to be high over an unusually large region beginning 150 kb centromeric of HLA-A and extending nearly 5 Mb telomeric of it. Recombination in this region was approximately 28% of the expected value. This low level of recombination contributes to the unusually broad region of linkage disequilibrium found with hh. The strongest disequilibrium was found at locus HLA-H (delta = .84) and at locus D6S2239 (delta = .85), a marker approximately 10 kb telomeric to HLA-H. All disequilibrium methods employed in this study found peak disequilibrium at HLA-H or D6S2239. The cys282tyr mutation in HLA-H, a candidate gene for hh, was found in 85% of disease chromosomes. A haplotype phylogeny for hh chromosomes was constructed and suggests that the mutation associated with the most common haplotype occurred relatively recently. The age of the hh mutation was estimated to be approximately 60-70 generations. Disequilibrium was maintained over a greater distance for hh-carrying chromosomes, consistent with a recent mutation for hh. Our data provide a reasonable explanation for previous difficulties in localizing the hh locus and provide an evolutionary history for disease chromosomes.

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“…The HLA-A probe revealed long, largely overlapping NotI, N r u I and M l u I fragments characteristic of the HLA-A2, B13 haplotype (Ragoussis et al 1989). HLA-E was not present on any of the fragments detectable by the HLA-A probe, except on a large NruI fragment that contained HLA-A,-J,-H,-G and F (results not shown) (Gruen et al 1992). This fragment showed overlapping with an 880-kb M l u I fragment and gave rise to a 590-kb fragment after double digestion.…”

Section: Resultsmentioning

confidence: 85%

“…Both these fragments also hybridized to the TUBB probe and a double digest with these enzymes gave the expected (Ragoussis et al 1989) unchanged NruI pattern with HLA-B and with TUBB. The known distance between HLA-C and HLA-E (Gruen et al 1992;Bronson et al 1991) implied that the TUBB gene was on a 400-kb NotI x MluI double digestion fragment. This was indeed the case, and demonstrated, when combined with results from all other digestions, that, in the HLA-A2,B13 haplotype present within BM19.7 cells, TUBB maps between HLA-C and HLA-E, 170-370-kb telomeric of HLA-C and 320-520-kb centromeric of HLA-E.…”

Section: Resultsmentioning

confidence: 99%

Presence of an expressed ?-tubulin gene (TUBB) in the HLA class I region may provide the genetic basis for HLA-linked microtubule dysfunction

Volz

Weiß²,

Trowsdale³

et al. 1994

Hum Genet

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Abstract. An expressed I]-tubulin gene (TUBB) has previously been localized to chromosome region 6pter-p21 in man. By using a panel of deletion mutant cell lines and radiation-reduced hybrids containing fragments of chromosome 6, the TUBB locus could be mapped to the HLA class I region at 6p21.3. A long range restriction map including TUBB and several HLA class I genes was then generated by rotating field gel electrophoresis. The results show that TUBB maps to a segment 170-370 kb telomeric of HLA-C. This location suggests that a mutation at the TUBB locus could be the cause for certain forms of HLAlinked microtubule dysfunction, including immotile cilia syndrome.

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Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE)

Cited by 23 publications

References 29 publications

The Human Major Histocompatibility Complex: 42,221 bp of Genomic Sequence, High-Density Sequence-Tagged Site Map, Evolution, and Polymorphism for HLA Class I

The Human Major Histocompatibility Complex: 42,221 bp of Genomic Sequence, High-Density Sequence-Tagged Site Map, Evolution, and Polymorphism for HLA Class I

Haplotype Analysis of Hemochromatosis: Evaluation of Different Linkage-Disequilibrium Approaches and Evolution of Disease Chromosomes

Presence of an expressed ?-tubulin gene (TUBB) in the HLA class I region may provide the genetic basis for HLA-linked microtubule dysfunction

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