DOI: 10.1073/pnas.74.7.2968. Mannosidosis: assignment of the lysosomal alpha-mannosidase B gene to chromosome 19 in man.

Mannosidosis: assignment of the lysosomal alpha-mannosidase B gene to chromosome 19 in man.

10.1073/pnas.74.7.2968

Crossref journal-article

Proceedings of the National Academy of Sciences

Proceedings of the National Academy of Sciences (341)

Abstract

Human alpha-mannosidase activity (alpha-D-mannoside mannohydrolase, EC 3.2.1.24) from tissues and cultured skin fibroblasts was separated by gel electrophoresis into a neutral, cytoplasmic form (alpha-mannosidase A) and two closely related acidic, lysosomal components (alpha-mannosidase B). Human mannosidosis, an inherited glycoprotein storage disorder, has been associated with severe deficiency of both lysosomal alpha-mannosidase B molecular forms. Chromosome assignment of the gene coding for human alpha-mannosidase B (MANB) has been determined in human-mouse and human-Chinese hamster somatic cell hybrids. The human alpha-mannosidase B phenotype showed concordant segregation with the human enzyme glucosephosphate isomerase (GPI) (D-glucose-6-phosphate ketolisomerase, EC 5.3.1.9) but discordant segregation with 30 other enzyme markers representing 20 linkage groups. The glucose-phosphate isomerase gene has been assigned to chromosome 19 in man. This MANB-GPI linkage and confirming chromosome studies demonstrate assignment of the alpha-mannosidase B structural gene to chromosome 19 in man. Since mannosidosis is believed to result from a structural defect in alpha-mannosidase B, these findings suggest that the mannosidosis mutation is located on chromosome 19 in man.

Bibliography

Champion, M. J., & Shows, T. B. (1977). Mannosidosis: assignment of the lysosomal alpha-mannosidase B gene to chromosome 19 in man. Proceedings of the National Academy of Sciences, 74(7), 2968â2972.

Authors 2

M J Champion (first)
T B Shows (additional)

References 0 Referenced 28

None

Dates

Type	When
Created	19 years, 3 months ago (May 31, 2006, 3:33 a.m.)
Deposited	3 years, 4 months ago (April 13, 2022, 11:16 a.m.)
Indexed	4 months, 4 weeks ago (April 8, 2025, 6:05 p.m.)
Issued	48 years, 2 months ago (July 1, 1977)
Published	48 years, 2 months ago (July 1, 1977)
Published Online	48 years, 2 months ago (July 1, 1977)
Published Print	48 years, 2 months ago (July 1, 1977)

Funders 0

None

BibTeX

@article{Champion_1977, title={Mannosidosis: assignment of the lysosomal alpha-mannosidase B gene to chromosome 19 in man.}, volume={74}, ISSN={1091-6490}, url={http://dx.doi.org/10.1073/pnas.74.7.2968}, DOI={10.1073/pnas.74.7.2968}, number={7}, journal={Proceedings of the National Academy of Sciences}, publisher={Proceedings of the National Academy of Sciences}, author={Champion, M J and Shows, T B}, year={1977}, month=jul, pages={2968–2972} }

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