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

Journal Article · · American Journal of Human Genetics; (United States)
OSTI ID:6596510
;  [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)
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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.

OSTI ID:
6596510
Journal Information:
American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:1; ISSN AJHGAG; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
ANTIBODIES
BLACK AMERICANS
BODY
BODY AREAS
CARBOXYLIC ACIDS
CELL CONSTITUENTS
CHROMOSOMES
DERMATITIS
DISEASES
DNA
DNA SEQUENCING
ELEMENTS
FIGS
FINGERS
FOOD
FRUITS
GENES
GENETIC MAPPING
HANDS
HEMIC DISEASES
HUMAN CHROMOSOMES
HUMAN POPULATIONS
HYBRIDIZATION
IMMUNE SYSTEM DISEASES
LEUCINE
LEUKOPENIA
LIMBS
LUPUS
LYMPHOPENIA
MAPPING
METALS
MINORITY GROUPS
NUCLEIC ACIDS
ORGANIC ACIDS
ORGANIC COMPOUNDS
PATIENTS
POPULATIONS
PROTEINS
RIBOSOMES
SKIN DISEASES
STRUCTURAL CHEMICAL ANALYSIS
ZINC