Gene encoding the human. beta. -hexosaminidase. beta. chain: Extensive homology of intron placement in the. alpha. - and. beta. -chain genes
- National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD (USA)
Lysosomal {beta}-hexosaminidase is composed of two structurally similar chains, {alpha} and {beta}, that are the products of different genes. Mutations in either gene causing {beta}-hexosaminidase deficiency result in the lysosomal storage disease GM2-gangliosidosis. To enable the investigation of the molecular lesions in this disorder and to study the evolutionary relationship between the {alpha} and {beta} chains, the {beta}-chain gene was isolated, and its organization was characterized. The {beta}-chain coding region is divided into 14 exons distributed over {approx}40 kilobases of DNA. Comparison with the {alpha}-chain gene revealed that 12 of the 13 introns interrupt the coding regions at homologous positions. This extensive sharing of intron placement demonstrates that the {alpha} and {beta} chains evolved by way of the duplication of a common ancestor.
- OSTI ID:
- 6827771
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 85:6; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
Similar Records
Inactivation of the {beta}-subunit of lysosomal {beta}-hexosaminidase by targeted disruption of the HEXB gene in mice
Structure of the human gene and two rat cDNAs encoding the. alpha. chain of GTP-binding regulatory protein G sub o : Two different mRNAs are generated by alternative splicing
Related Subjects
GENES
DNA SEQUENCING
O-GLYCOSYL HYDROLASES
GENETIC MAPPING
MOLECULAR STRUCTURE
BIOLOGICAL EVOLUTION
GENE MUTATIONS
LYSOSOMES
OLIGONUCLEOTIDES
CELL CONSTITUENTS
ENZYMES
GLYCOSYL HYDROLASES
HYDROLASES
MAPPING
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORGANOIDS
STRUCTURAL CHEMICAL ANALYSIS
550401* - Genetics- Tracer Techniques
550201 - Biochemistry- Tracer Techniques