PMID- 1054503
OWN - NLM
STAT- MEDLINE
DCOM- 19750611
LR  - 20190501
IS  - 0027-8424 (Print)
IS  - 0027-8424 (Linking)
VI  - 72
IP  - 1
DP  - 1975 Jan
TI  - Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A 
      and B to individual human chromosomes.
PG  - 263-7
AB  - The techniques of somatic cell genetics have been used to establish the linkage
      relationships of loci coding for two forms (A and B) of hexosaminidase (EC
      3.2.1.30; 2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase) and 
      to determine whether a structural relationship exists between these forms. In a
      series of human-mouse hybrid cell lines, hexosaminidase A and B segregated
      independently. Our results and those reported by other investigators are used to 
      analyze the proposed structural models for hexosaminidase. We have also been able
      to establish a syntenic relationship between the gene locus responsible for the
      expression of hexosaminidase A and those responsible for mannosephosphate
      isomerase and pyruvate kinase-3 and to assign the gene for hexosaminidase B to
      chromosome 5 in man. There is thus a linkage between specific human autosomes and
      enzymes implicated in the production of lipid storage diseases.
FAU - Gilbert, F
AU  - Gilbert F
FAU - Kucherlapati, R
AU  - Kucherlapati R
FAU - Creagan, R P
AU  - Creagan RP
FAU - Murnane, M J
AU  - Murnane MJ
FAU - Darlington, G J
AU  - Darlington GJ
FAU - Ruddle, F H
AU  - Ruddle FH
LA  - eng
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Proc Natl Acad Sci U S A
JT  - Proceedings of the National Academy of Sciences of the United States of America
JID - 7505876
RN  - EC 2.7.1.40 (Pyruvate Kinase)
RN  - EC 3.2.1.- (Hexosaminidases)
RN  - EC 5.1.3.- (Carbohydrate Epimerases)
RN  - PHA4727WTP (Mannose)
SB  - IM
MH  - Animals
MH  - Carbohydrate Epimerases/metabolism
MH  - Cell Line
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, 4-5
MH  - Clone Cells
MH  - Female
MH  - *Genes
MH  - *Genetic Linkage
MH  - Hexosaminidases/*metabolism
MH  - Humans
MH  - Hybrid Cells
MH  - Lipidoses/enzymology/*genetics
MH  - Male
MH  - Mannose
MH  - Mice
MH  - Pyruvate Kinase/metabolism
PMC - PMC432284
EDAT- 1975/01/01 00:00
MHDA- 1975/01/01 00:01
CRDT- 1975/01/01 00:00
PHST- 1975/01/01 00:00 [pubmed]
PHST- 1975/01/01 00:01 [medline]
PHST- 1975/01/01 00:00 [entrez]
AID - 10.1073/pnas.72.1.263 [doi]
PST - ppublish
SO  - Proc Natl Acad Sci U S A. 1975 Jan;72(1):263-7. doi: 10.1073/pnas.72.1.263.