Structural organization of the human. alpha. -galactosidase A gene: Further evidence for the absence of a 3 prime untranslated region

Journal Article · Wed Jun 01 04:00:00 EDT 1988 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.85.11.3903· OSTI ID:5516687

Bishop, D F; Kornreich, R; Desnick, R J ^[1]

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1. Mount Sinai School of Medicine, New York, NY (USA)

Human {alpha}-galactosidase A is a lysosomal hydrolase encoded by a gene localized to the chromosomal region Xq22. The deficient activity of this enzyme results in Fabry disease, an X chromosome-linked recessive disorder that leads to premature death in affected males. For studies of the structure and function of {alpha}-galactosidase A and for characterization of the genetic lesions in families with Fabry disease, the full-length cDNA was isolated, sequenced, and used to screen human genomic libraries. The 1393-base-pair full-length cDNA had a 60-nucleotide 5{prime} untranslated region and encoded a precursor peptide of 429 amino acids including a signal peptide of 31 residues. Three overlapping {lambda} clones spanning 32 kilobases were identified that contained the entire {approx}12-kilobase chromosomal gene as well as {approx}9 and {approx}11 kilobases of 5{prime} and 3{prime} flanking sequence, respectively. The gene had seven exons. The genomic exonic and full-length cDNA sequences were identical. There was an upstream HTF island (Hpa II tiny fragments) followed by four direct repeats of the chorion box enhancer. The unique lace of a 3{prime} untranslated sequence in the {alpha}-galactosidase A cDNA was confirmed by sequencing additional cDNA clones and the genomic 3{prime} region.

• OSTI ID: 5516687
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 85:11; ISSN PNASA; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AMINO ACID SEQUENCE
ANIMALS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CHROMOSOMES
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
DNA SEQUENCING
ENZYMES
EVEN-ODD NUCLEI
GALACTOSIDASE
GENES
GLYCOSYL HYDROLASES
HEREDITARY DISEASES
HETEROCHROMOSOMES
HYDROLASES
ISOTOPES
LIGHT NUCLEI
MALES
MAMMALS
MAN
MEN
MOLECULAR STRUCTURE
NUCLEI
NUCLEIC ACIDS
O-GLYCOSYL HYDROLASES
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
PRIMATES
RADIOISOTOPES
RECOMBINANT DNA
STRUCTURAL CHEMICAL ANALYSIS
SULFUR 35
SULFUR ISOTOPES
VERTEBRATES
X CHROMOSOME