Genomics. 1993 Nov;18(2):429-31.

Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.

Heng HH, Xie B, Shi XM, Tsui LC, Mahuran DJ.

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Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.

Abstract

The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based methodology. However, we demonstrated that the PCR primers used preferentially amplified a processed pseudogene (GM2AP) that we mapped to chromosome 3 and that GM2A was located on chromosome 5. In this report, we reconsider the candidacy of GM2A by refining its localization on chromosome 5 using fluorescence in situ hybridization. We localize GM2A to 5q31.3-q33.1; thus, it is not a candidate gene for SMA.

PMID:: 8288250; [PubMed - indexed for MEDLINE]

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Regional localization of the gene coding for the GM2 activator protein (GM2A) to chromosome 5q32-33 and confirmation of the assignment of GM2AP to chromosome 3. [Ann Hum Genet. 1993]
Regional localization of the gene coding for the GM2 activator protein (GM2A) to chromosome 5q32-33 and confirmation of the assignment of GM2AP to chromosome 3.
Swallow DM, Islam I, Fox MF, Povey S, Klima H, Schepers U, Sandhoff K. Ann Hum Genet. 1993 Jul; 57(Pt 3):187-93.
Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5. [Genomics. 1992]
Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.
Xie B, Kennedy JL, McInnes B, Auger D, Mahuran D. Genomics. 1992 Nov; 14(3):796-8.
The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping. [Genomics. 1994]
The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping.
Yamanaka S, Johnson ON, Lyu MS, Kozak CA, Proia RL. Genomics. 1994 Dec; 24(3):601-4.
Review [Juvenile and adult forms of spinal muscular atrophies]. [Neurologia. 1996]
Review [Juvenile and adult forms of spinal muscular atrophies].
Pou A. Neurologia. 1996 Dec; 11 Suppl 5:43-57.
Review [Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy]. [Schweiz Med Wochenschr. 1996]
Review [Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].
Spiegel R, Hagmann A, Boltshauser E, Moser H. Schweiz Med Wochenschr. 1996 May 25; 126(21):907-14.

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Cited by 2 PubMed Central articles

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Hou Y, Vocadlo D, Withers S, Mahuran D. Biochemistry. 2000 May 23; 39(20):6219-27.
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. [Am J Hum Genet. 1999]
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.
Chen B, Rigat B, Curry C, Mahuran DJ. Am J Hum Genet. 1999 Jul; 65(1):77-87.

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Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, dista...
Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.
Genomics. 1993 Nov ;18(2):429-31.

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