G M1 -gangliosidosis: Chromosome 3 assignment of the β -galactosidase-A gene ( β GAL A )
dc.contributor.author | Shows, Thomas B. | en_US |
dc.contributor.author | Scrafford-Wolff, Linda R. | en_US |
dc.contributor.author | Brown, Judith A. | en_US |
dc.contributor.author | Meisler, Miriam H. | en_US |
dc.date.accessioned | 2006-09-11T16:11:52Z | |
dc.date.available | 2006-09-11T16:11:52Z | |
dc.date.issued | 1979-03 | en_US |
dc.identifier.citation | Shows, Thomas B.; Scrafford-Wolff, Linda R.; Brown, Judith A.; Meisler, Miriam H.; (1979). "G M1 -gangliosidosis: Chromosome 3 assignment of the β -galactosidase-A gene ( β GAL A )." Somatic Cell Genetics 5(2): 147-158. <http://hdl.handle.net/2027.42/45554> | en_US |
dc.identifier.issn | 0098-0366 | en_US |
dc.identifier.issn | 1572-9931 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/45554 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=113895&dopt=citation | en_US |
dc.description.abstract | The structural gene (βGAL A ) coding for lysosomal β-galactosidase- A (EC 3.2.1.23) has been assigned to human chromosome 3 using man-mouse somatic cell hybrids. Human β-galactosidase-A was identified in cell hybrids with a species-specific antiserum to human liver β-galactosidase-A. The antiserum precipitates β-galactosidase-A from human tissues, cultured cells, and cell hybrids, and recognizes cross-reacting material from a patient with G M1 gangliosidosis. We have analyzed 90 primary man-mouse hybrids derived from 12 separate fusion experiments utilizing cells from 9 individuals. Enzyme segregation analysis excluded all chromosomes for βGAL A assignment except chromosome 3. Concordant segregation of chromosomes and enzymes in 16 cell hybrids demonstrated assignment of βGAL A to chromosome 3; all other chromosomes were excluded. The evidence suggests that G M1 gangliosidosis is a consequence of mutation at this βGAL A locus on chromosome 3. | en_US |
dc.format.extent | 1118123 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Kluwer Academic Publishers-Plenum Publishers; Plenum Publishing Corporation ; Springer Science+Business Media | en_US |
dc.subject.other | Plant Sciences | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Biochemistry, General | en_US |
dc.subject.other | Animal Anatomy / Morphology / Histology | en_US |
dc.title | G M1 -gangliosidosis: Chromosome 3 assignment of the β -galactosidase-A gene ( β GAL A ) | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Natural Resources and Environment | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Ecology and Evolutionary Biology | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, 48109, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | New York State Department of Health, Biochemical Genetics Section, Roswell Park Memorial Institute, 14263, Buffalo, New York | en_US |
dc.contributor.affiliationother | Department of Human Genetics, Medical College of Virginia, 23298, Richmond, Virginia | en_US |
dc.contributor.affiliationother | New York State Department of Health, Biochemical Genetics Section, Roswell Park Memorial Institute, 14263, Buffalo, New York | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 113895 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/45554/1/11188_2005_Article_BF01539157.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF01539157 | en_US |
dc.identifier.source | Somatic Cell Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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