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Title: The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome II, and its polymorphisms

Abstract

Autoantibodies to the ribonucleoprotein Ro/SSA occur in nearly half of the patients with systemic lupus erythematosus and are associated with lymphopenia, photosensitive dermatitis, and pulmonary and renal disease, which suggests that they have an immunopathologic role. The majority of Ro/SSA precipitin-positive patients produce serum antibodies that bind to the 60-kD and 52-kD Ro/SSA proteins. The authors previously isolated and determined the nucleotide sequence of a cDNA clone that encodes the 52-kD form of the human Ro/SSA protein. In the present study, they have determined the chromosomal location of the gene by in situ hybridization to the end of the short arm of chromosome 11. Hybridization of portions of the cDNA probe to restriction enzyme-digested DNA indicated the gene is composed of at least three exons. The exon encoding the putative zinc fingers of this protein was found to be distinct from that which encodes the leucine zipper. An RFLP of this gene was identified and is associated with the presence of lupus, primarily in black Americans. 60 refs., 3 figs., 3 tabs.

Authors:
;  [1];  [2];  [3];  [4];  [5]
  1. (Oklahoma Medical Research Foundation, Oklahoma City (United States))
  2. (Hokkaido Univ., Sapporo (Japan))
  3. (Centre de Recherches sur le Polymorphisme Genetique des Populations Humaines, Toulouse (France))
  4. (INSERM U 242, Marseille (France))
  5. (Oklahoma Medical Research Foundation, Oklahoma City (United States) Univ. of Oklahoma, Oklahoma City (United States))
Publication Date:
OSTI Identifier:
6596510
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; (United States); Journal Volume: 52:1
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HUMAN CHROMOSOMES; MAPPING; LUPUS; GENETIC MAPPING; PROTEINS; GENES; RIBOSOMES; ANTIBODIES; BLACK AMERICANS; DERMATITIS; DNA; DNA SEQUENCING; FIGS; FINGERS; HYBRIDIZATION; LEUCINE; LYMPHOPENIA; PATIENTS; ZINC; AMINO ACIDS; BODY; BODY AREAS; CARBOXYLIC ACIDS; CELL CONSTITUENTS; CHROMOSOMES; DISEASES; ELEMENTS; FOOD; FRUITS; HANDS; HEMIC DISEASES; HUMAN POPULATIONS; IMMUNE SYSTEM DISEASES; LEUKOPENIA; LIMBS; METALS; MINORITY GROUPS; NUCLEIC ACIDS; ORGANIC ACIDS; ORGANIC COMPOUNDS; POPULATIONS; SKIN DISEASES; STRUCTURAL CHEMICAL ANALYSIS 550400* -- Genetics

Citation Formats

Frank, M.B., Itoh, Kazuko, Fujisaku, Atsushi, Pontarotti, P., Mattei, M.G., and Neas, B.R.. The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome II, and its polymorphisms. United States: N. p., 1993. Web.
Frank, M.B., Itoh, Kazuko, Fujisaku, Atsushi, Pontarotti, P., Mattei, M.G., & Neas, B.R.. The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome II, and its polymorphisms. United States.
Frank, M.B., Itoh, Kazuko, Fujisaku, Atsushi, Pontarotti, P., Mattei, M.G., and Neas, B.R.. 1993. "The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome II, and its polymorphisms". United States. doi:.
@article{osti_6596510,
title = {The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome II, and its polymorphisms},
author = {Frank, M.B. and Itoh, Kazuko and Fujisaku, Atsushi and Pontarotti, P. and Mattei, M.G. and Neas, B.R.},
abstractNote = {Autoantibodies to the ribonucleoprotein Ro/SSA occur in nearly half of the patients with systemic lupus erythematosus and are associated with lymphopenia, photosensitive dermatitis, and pulmonary and renal disease, which suggests that they have an immunopathologic role. The majority of Ro/SSA precipitin-positive patients produce serum antibodies that bind to the 60-kD and 52-kD Ro/SSA proteins. The authors previously isolated and determined the nucleotide sequence of a cDNA clone that encodes the 52-kD form of the human Ro/SSA protein. In the present study, they have determined the chromosomal location of the gene by in situ hybridization to the end of the short arm of chromosome 11. Hybridization of portions of the cDNA probe to restriction enzyme-digested DNA indicated the gene is composed of at least three exons. The exon encoding the putative zinc fingers of this protein was found to be distinct from that which encodes the leucine zipper. An RFLP of this gene was identified and is associated with the presence of lupus, primarily in black Americans. 60 refs., 3 figs., 3 tabs.},
doi = {},
journal = {American Journal of Human Genetics; (United States)},
number = ,
volume = 52:1,
place = {United States},
year = 1993,
month = 1
}
  • Cosmid DNAs were digested with Bg/II and BamHI and ligated into a BamHI site of an exon trapping-vector pSPL1. Transfection of the subcloned DNAs into cos7 cells, isolation of cytoplasmic RNA, synthesis of cDNA by reverse transcriptase, and amplificaiton of spliced fragments were performed according to the methods described by Buckler et al.
  • Glutamate-cysteine ligase (EC 6.3.2.2, GLCL), formerly called {gamma}-glutamylcysteine synthetase (GCS), is the rate-limiting enzyme in the de novo synthesis of the antioxidant tripeptide glutathione. GLCL consists of a heavy subunit, which possesses catalytic activity and is the site of glutathione feedback inhibition, and a light subunit, which has a regulatory function. Glutathione is ubiquitous in mammalian tissues and performs a variety of functions, including protection from reactive oxygen species through antioxidant properties; detoxification of xenobiotics, organic peroxides, and heavy metals; and maintenance of sulfhydryl groups of other molecules. Increased intracellular levels of glutathione have also been found in tumor cellsmore » resistant to chemotherapeutic agents. Increased expression of GLCL in melphalan-resistant myeloma and prostate carcinoma cells and cisplatinum-resistant ovarian carcinoma cells suggests that this enzyme may be involved in glutathione-associated drug resistance. Moreover, GLCL has been shown to be induced by phenolic antioxidants and heavy metals. Recently, Mulcahy and Gipp have shown that the GLCL catalytic subunit gene (GLCLC) contains a putative antioxidant regulatory element, which may explain the responsiveness of this gene to agents that induce oxidative stress. To further our understanding of GLCL, which is linked to such a wide variety of metabolic and physiological functions through its role in glutathione synthesis, we have mapped both the catalytic and regulatory subunit genes (GLCLC and GLCLR) to human and mouse chromosomes by fluorescence in situ hybridization (FISH). 16 refs., 1 fig.« less
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  • The actions of thromboxane A[sub 2] as a prostaglandin mediator are dependent on its recently cloned and sequenced receptor. The identification and characterization of DNA polymorphisms in the thromboxane A[sub 2] receptor (TBXA2R) will advance the study of this gene as a candidate in a number of medical disorders. The authors amplified a 573-nucleotide fragment of the transcribed 3[prime] untranslated region of the TBXA2R gene using the polymerase chain reaction (PCR) and the published cDNA sequence. This region was found to contain two sequence polymorphisms within an Alu. These DNA polymorphisms were demonstrated using an efficient method of direct solid-phasemore » sequence analysis. Three of the four expected alleles were observed in the CEPH families. TBXA2R was localized to chromosome 19 by PCR amplification in a series of monochromosomal human/rodent somatic cell hybrids. Linkage mapping places TBXA2R closest to the anonymous marker D19S120, with a maximal LOD = 19.55, at a [theta] = 0.05 in the CEPH panel of DNAs. Multipoint linkage analysis places TBXA2R between the markers D19S120 and PMS207 on the telomeric end of chromosome 19p13.3. 25 refs., 2 figs., 1 tab.« less
  • {zeta}-Crystallin is a lens protein that has been associated with autosomal dominant congenital cataracts in guinea pigs and thus is a candidate for human congenital cataracts. The authors have assigned the {zeta}-crystallin gene (CRYZ) to human chromosome 1 using a Southern panel of 17 human-mouse somatic cell hybrids and regionally localized it to 1p22-p31 by fluorescence in situ hybridation. Five restriction fragment length polymorphisms were identified by analyzing the DNA from 10 unrelated, unaffected individuals. The results will permit evaluation of its role in human cataractogenesis. 22 refs., 3 figs., 2 tabs.