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

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