Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3

Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency

Lucia Bartoloni, Marie Wattenhofer, Jun Kudoh, Asher Berry, Kazunori Shibuya, Kazuhiko Kawasaki, Jun Wang, Shuichi Asakawa, Ilana Talior, Batsheva Bonne-Tamir, Colette Rossier, Joelle Michaud, Edward R.B. McCabe, Shinsei Minoshima, Nobuyoshi Shimizu, Hamish S. Scott, Stylianos E. Antonarakis

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Using multiple exons trapped from human chromosome 21 (HC21)-specifc cosmids with homology to a putative Arabidopsis thaliana glycerol 3-phosphate permease, we have determined the full-length cDNA sequence of a novel HC21 gene encoding a putative sugar-phosphate transporter (HGMW-approved symbol SLC37A1, aka G3PP). The predicted protein has 12 putative transmembrane domains and is also highly homologous to bacterial glpT proteins. The transcript was precisely mapped to 21q22.3 between D21S49 and D21S113. Comparison of the SLC37A1 cDNA to genomic sequence revealed that the gene encompasses 82 kb, and it is split into 19 coding exons and 7 untranslated exons, which are alternatively spliced in a complex and tissue-specific manner. Glycerol 3-phosphate (G3P) is produced by glycerol kinase (GK) and is found in several biochemical pathways in different cellular compartments, such as the glycerol phosphate shuttle and glycerophospholipid synthesis. Thus SLC37A1 mutations may cause a phenotype similar to GK deficiency. Mutational analyses of SLC37A1 in seven patients with no mutations in the GK gene and low GK activity revealed only nonpathogenetic sequence variants, excluding SLC37A1 as the gene for the phenotype in these patients. SLC37A1 maps in the refined critical region of the autosomal recessive deafhess locus, DFNB10, on 21q22.3. Mutation analyses also excluded SLC37A1 as the gene for DFNB10. (C) 2000 Academic Press.

Original languageEnglish (US)
Pages (from-to)190-200
Number of pages11
JournalGenomics
Volume70
Issue number2
DOIs
StatePublished - Dec 1 2000

Fingerprint

Glycerol Kinase
Organism Cloning
Phenotype
Mutation
Exons
Chromosomes, Human, Pair 21
Genes
Human Chromosomes
Complementary DNA
Phosphate Transport Proteins
Sugar Phosphates
Glycerophospholipids
Cosmids
Bacterial Proteins
Arabidopsis
Glycerol
Phosphates
Autosomal Recessive 10 Deafness
phosphate permease
alpha-glycerophosphoric acid

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Bartoloni, Lucia ; Wattenhofer, Marie ; Kudoh, Jun ; Berry, Asher ; Shibuya, Kazunori ; Kawasaki, Kazuhiko ; Wang, Jun ; Asakawa, Shuichi ; Talior, Ilana ; Bonne-Tamir, Batsheva ; Rossier, Colette ; Michaud, Joelle ; McCabe, Edward R.B. ; Minoshima, Shinsei ; Shimizu, Nobuyoshi ; Scott, Hamish S. ; Antonarakis, Stylianos E. / Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3 : Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency. In: Genomics. 2000 ; Vol. 70, No. 2. pp. 190-200.
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abstract = "Using multiple exons trapped from human chromosome 21 (HC21)-specifc cosmids with homology to a putative Arabidopsis thaliana glycerol 3-phosphate permease, we have determined the full-length cDNA sequence of a novel HC21 gene encoding a putative sugar-phosphate transporter (HGMW-approved symbol SLC37A1, aka G3PP). The predicted protein has 12 putative transmembrane domains and is also highly homologous to bacterial glpT proteins. The transcript was precisely mapped to 21q22.3 between D21S49 and D21S113. Comparison of the SLC37A1 cDNA to genomic sequence revealed that the gene encompasses 82 kb, and it is split into 19 coding exons and 7 untranslated exons, which are alternatively spliced in a complex and tissue-specific manner. Glycerol 3-phosphate (G3P) is produced by glycerol kinase (GK) and is found in several biochemical pathways in different cellular compartments, such as the glycerol phosphate shuttle and glycerophospholipid synthesis. Thus SLC37A1 mutations may cause a phenotype similar to GK deficiency. Mutational analyses of SLC37A1 in seven patients with no mutations in the GK gene and low GK activity revealed only nonpathogenetic sequence variants, excluding SLC37A1 as the gene for the phenotype in these patients. SLC37A1 maps in the refined critical region of the autosomal recessive deafhess locus, DFNB10, on 21q22.3. Mutation analyses also excluded SLC37A1 as the gene for DFNB10. (C) 2000 Academic Press.",
author = "Lucia Bartoloni and Marie Wattenhofer and Jun Kudoh and Asher Berry and Kazunori Shibuya and Kazuhiko Kawasaki and Jun Wang and Shuichi Asakawa and Ilana Talior and Batsheva Bonne-Tamir and Colette Rossier and Joelle Michaud and McCabe, {Edward R.B.} and Shinsei Minoshima and Nobuyoshi Shimizu and Scott, {Hamish S.} and Antonarakis, {Stylianos E.}",
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Bartoloni, L, Wattenhofer, M, Kudoh, J, Berry, A, Shibuya, K, Kawasaki, K, Wang, J, Asakawa, S, Talior, I, Bonne-Tamir, B, Rossier, C, Michaud, J, McCabe, ERB, Minoshima, S, Shimizu, N, Scott, HS & Antonarakis, SE 2000, 'Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency', Genomics, vol. 70, no. 2, pp. 190-200. https://doi.org/10.1006/geno.2000.6395

Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3 : Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency. / Bartoloni, Lucia; Wattenhofer, Marie; Kudoh, Jun; Berry, Asher; Shibuya, Kazunori; Kawasaki, Kazuhiko; Wang, Jun; Asakawa, Shuichi; Talior, Ilana; Bonne-Tamir, Batsheva; Rossier, Colette; Michaud, Joelle; McCabe, Edward R.B.; Minoshima, Shinsei; Shimizu, Nobuyoshi; Scott, Hamish S.; Antonarakis, Stylianos E.

In: Genomics, Vol. 70, No. 2, 01.12.2000, p. 190-200.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3

T2 - Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency

AU - Bartoloni, Lucia

AU - Wattenhofer, Marie

AU - Kudoh, Jun

AU - Berry, Asher

AU - Shibuya, Kazunori

AU - Kawasaki, Kazuhiko

AU - Wang, Jun

AU - Asakawa, Shuichi

AU - Talior, Ilana

AU - Bonne-Tamir, Batsheva

AU - Rossier, Colette

AU - Michaud, Joelle

AU - McCabe, Edward R.B.

AU - Minoshima, Shinsei

AU - Shimizu, Nobuyoshi

AU - Scott, Hamish S.

AU - Antonarakis, Stylianos E.

PY - 2000/12/1

Y1 - 2000/12/1

N2 - Using multiple exons trapped from human chromosome 21 (HC21)-specifc cosmids with homology to a putative Arabidopsis thaliana glycerol 3-phosphate permease, we have determined the full-length cDNA sequence of a novel HC21 gene encoding a putative sugar-phosphate transporter (HGMW-approved symbol SLC37A1, aka G3PP). The predicted protein has 12 putative transmembrane domains and is also highly homologous to bacterial glpT proteins. The transcript was precisely mapped to 21q22.3 between D21S49 and D21S113. Comparison of the SLC37A1 cDNA to genomic sequence revealed that the gene encompasses 82 kb, and it is split into 19 coding exons and 7 untranslated exons, which are alternatively spliced in a complex and tissue-specific manner. Glycerol 3-phosphate (G3P) is produced by glycerol kinase (GK) and is found in several biochemical pathways in different cellular compartments, such as the glycerol phosphate shuttle and glycerophospholipid synthesis. Thus SLC37A1 mutations may cause a phenotype similar to GK deficiency. Mutational analyses of SLC37A1 in seven patients with no mutations in the GK gene and low GK activity revealed only nonpathogenetic sequence variants, excluding SLC37A1 as the gene for the phenotype in these patients. SLC37A1 maps in the refined critical region of the autosomal recessive deafhess locus, DFNB10, on 21q22.3. Mutation analyses also excluded SLC37A1 as the gene for DFNB10. (C) 2000 Academic Press.

AB - Using multiple exons trapped from human chromosome 21 (HC21)-specifc cosmids with homology to a putative Arabidopsis thaliana glycerol 3-phosphate permease, we have determined the full-length cDNA sequence of a novel HC21 gene encoding a putative sugar-phosphate transporter (HGMW-approved symbol SLC37A1, aka G3PP). The predicted protein has 12 putative transmembrane domains and is also highly homologous to bacterial glpT proteins. The transcript was precisely mapped to 21q22.3 between D21S49 and D21S113. Comparison of the SLC37A1 cDNA to genomic sequence revealed that the gene encompasses 82 kb, and it is split into 19 coding exons and 7 untranslated exons, which are alternatively spliced in a complex and tissue-specific manner. Glycerol 3-phosphate (G3P) is produced by glycerol kinase (GK) and is found in several biochemical pathways in different cellular compartments, such as the glycerol phosphate shuttle and glycerophospholipid synthesis. Thus SLC37A1 mutations may cause a phenotype similar to GK deficiency. Mutational analyses of SLC37A1 in seven patients with no mutations in the GK gene and low GK activity revealed only nonpathogenetic sequence variants, excluding SLC37A1 as the gene for the phenotype in these patients. SLC37A1 maps in the refined critical region of the autosomal recessive deafhess locus, DFNB10, on 21q22.3. Mutation analyses also excluded SLC37A1 as the gene for DFNB10. (C) 2000 Academic Press.

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U2 - 10.1006/geno.2000.6395

DO - 10.1006/geno.2000.6395

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