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

Journal Article · Fri Jan 01 00:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6596510

Frank, M B; Itoh, Kazuko ^[1]; Fujisaku, Atsushi ^[2]; Pontarotti, P ^[3]; Mattei, M G ^[4]; Neas, B R ^[5]

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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)

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), Vol. 52:1; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

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