Mapping of the human 60 000 M r Ro/SSA locus: the genes for three Ro/SSA autoantigens are located on separate chromosomes

Frank, Mark Barton; Matteï, Marie‐Geneviève

doi:10.1007/bf00176161

Cited by 6 publications

(5 citation statements)

References 29 publications

(12 reference statements)

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“…The 60 kD Ro gene was mapped to chromosome 1 (cM position 78.7) near the ribosomal protein L7 related sequence 9 gene (Rpl17-9), 20 resistance to mousepox 4 gene (Rmp4), 21 the endogenous ecotropic MuL V 38 gene (Emv 38) 22 and seizure susceptibility 1 gene (Szs1). 23 This region is syntenic to human chromosome 1q31 where the human 60 kD Ro gene has been mapped 24 and is in confirmation of a previous localization of mouse 60 kD Ro. 13,14 Three murine lupus susceptibility loci have been mapped to chromosome 1.…”

Section: Chromosomal Localizationsupporting

confidence: 83%

Characterization and genomic sequence of the murine 60 kD Ro gene

Kaufman

et al. 2000

Genes Immun

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Section: Chromosomal Localizationsupporting

confidence: 83%

Characterization and genomic sequence of the murine 60 kD Ro gene

Kaufman

et al. 2000

Genes Immun

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“…The RoRet protein is 58% identical to the 52-kD Ro/SSA lupus erythematosus and Sjogren's syndrome autoantigen. The 52-kD Ro/SSA gene is located on chromosome 11p15.5 (Frank and Mattei 1994). The function of the 52-kD Ro/SSA protein, which is part of a large complex of at least two other proteins, is unknown.…”

Section: Genes In the Hemochromatosis Regionmentioning

confidence: 99%

A 1.1-Mb Transcript Map of the Hereditary Hemochromatosis Locus

Ruddy¹,

Kronmal²,

Lee³

et al. 1997

Genome Res.

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In the process of positionally cloning a candidate gene responsible for hereditary hemochromatosis (HH), we constructed a 1.1-Mb transcript map of the region of human chromosome 6p that lies 4.5 Mb telomeric to HLA-A. A combination of three gene-finding techniques, direct cDNA selection, exon trapping, and sample sequencing, were used initially for a saturation screening of the 1.1-Mb region for expressed sequence fragments. As genetic analysis further narrowed the HH candidate locus, we sequenced completely 0.25 Mb of genomic DNA as a final measure to identify all genes. Besides the novel MHC class 1-like HH candidate gene HLA-H, we identified a family of five butyrophilin-related sequences, two genes with structural similarity to a type 1 sodium phosphate transporter, 12 novel histone genes, and a gene we named RoRet based on its strong similarity to the 52-kD Ro/SSA lupus and Sjogren’s syndrome auto-antigen and the RET finger protein. Several members of the butyrophilin family and the RoRet gene share an exon of common evolutionary origin called B30-2. The B30-2 exon was originally isolated from the HLA class 1 region, yet has apparently “shuffled” into several genes along the chromosome telomeric to the MHC. The conservation of the B30-2 exon in several novel genes and the previously described amino acid homology of HLA-H to MHC class 1 molecules provide further support that this gene-rich region of 6p21.3 is related to the MHC. Finally, we performed an analysis of the four approaches for gene finding and conclude that direct selection provides the most effective probes for cDNA screening, and that as much as 30% of ESTs in this 1.1-Mb region may be derived from noncoding genomic DNA.[The sequence data described in this paper have been submitted to GenBank under accession nos. U90543–U90548,U90550–U90552, and U91328.]

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“…These non-homologous proteins are encoded by distinct genes on different chromosomes [1][2][3]. The role of autoantibodies that bind to these proteins in the pathogenesis of these diseases is not clear, although considerable proportions of IgG in patient sera can be directed against them.…”

Section: Introductionmentioning

confidence: 99%