Regional assignment of the structural gene for human acid β-glucosidase to q42→qter on chromosome 1

Devine, Evelyn A.; Smith, Moyra; Arredondo-Vega, Francisco X.; Shafit‐Zagardo, Bridget; Desnick, Robert J.

doi:10.1159/000131781

Cited by 21 publications

(10 citation statements)

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“…The region was further narrowed to 1q21-q31 by Chinese hamster-human cell hybrid analysis (Barneveld et al 1983;Ginns et al 1985) and to 1q21 by in situ hybridization (Ginns et al 1985). These data are in contradiction with previous studies which placed the GBA locus to 1q42-qter (Devine 1982;Devine et al 1982).…”

Section: Introductioncontrasting

confidence: 70%

Genetic fine localization of the β-glucocerebrosidase ( GBA ) and prosaposin ( PSAP ) genes: implications for Gaucher disease

Cormand

Montfort

Chabás³

et al. 1997

Human Genetics

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Mutations in the glucocerebrosidase (GBA) and prosaposin (PSAP) genes are responsible for Gaucher disease, the most prevalent sphingolipidosis. Somatic cell hybrid analysis and in situ hybridization experiments have localized the GBA gene to 1q21 and the PSAP gene to 10q21-q22. We performed pairwise and multi-point linkage analyses between the two genes and several highly polymorphic markers from the Généthon human linkage map. Our results show that six markers cosegregate with the GBA gene (Zmax = 8.73 at theta = 0.00 for marker D1S2714) and define a 3.2-cM interval between D1S305 and D1S2624 as the most probable location for the gene. Three of these markers (D1S2777, D1S303, and D1S2140), as well as the gene encoding pyruvate kinase (PKLR), are contained in a single YAC clone together with the GBA gene. A new polymorphism was identified within the PSAP gene (C16045T) and used for linkage studies. The multi-point analysis places the gene in a 9.8-cM interval between D10S1688 and D10S607. The fine localization of these genes provides a useful tool for cosegregation analysis, indirect molecular diagnosis, and population genetic studies.

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Section: Introductioncontrasting

confidence: 70%

Genetic fine localization of the β-glucocerebrosidase ( GBA ) and prosaposin ( PSAP ) genes: implications for Gaucher disease

Cormand

Montfort

Chabás³

et al. 1997

Human Genetics

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“…Barneveld et al (8) assigned the structural gene for glucocerebrosidase using Chinese hamster-human cell hybrids to chromosome region 1q21-1q31. Another laboratory independently assigned the gene to region lq42-lqter using different somatic cell hybrids (19). In an attempt to resolve this controversy, we have identified CRM to glucocerebrosidase in cell extracts from a panel of Chinese hamster-human cell lines (Fig.…”

Section: Resultsmentioning

confidence: 99%

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

Ginns¹,

Choudary²,

Tsuji³

et al. 1985

Proc. Natl. Acad. Sci. U.S.A.

105

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Analysis of immunologic cross-reacting material in Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; 8-D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1.45) to chromosome 1 bands q21-q32. In situ hybridization of a radiolabeled human glucocerebrosidase cDNA to high resolution human chromosomes demonstrated that a single locus encoding glucocerebrosidase is on 1q21, adjacent to a region of chromosome 1 (lqh) abundant in structural heteromorphisms. We also have identified a hydrophobic leader polypeptide encoded by this locus, permitting a more complete description of the biosynthesis of the enzyme. These results suggest that the type-specific protein polymorphisms in Gaucher disease result from mutations at this single locus, whose segregation might be followed by linkage to visible chromosomal heteromorphisms.

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“…The assignment of acid beta-glucosidase (G B A ) has been substantiated by further work from the same laboratory (Devine et al, 1982) and c o n f i r m e d independently (Reuser et al, 1984). There is, however, some difficulty with the regional assignment ( fig.…”

Section: Conf Irmat Ionsmentioning

confidence: 89%

Report of the committee on the genetic constitution of chromosome 1

Hamerton¹,

Povey²,

Morton³

1984

Cytogenet Genome Res

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Regional assignment of the structural gene for human acid β-glucosidase to q42→qter on chromosome 1

Cited by 21 publications

References 1 publication

Genetic fine localization of the β-glucocerebrosidase ( GBA ) and prosaposin ( PSAP ) genes: implications for Gaucher disease

Genetic fine localization of the β-glucocerebrosidase ( GBA ) and prosaposin ( PSAP ) genes: implications for Gaucher disease

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

Report of the committee on the genetic constitution of chromosome 1

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