Entry - *138390 - GLUTATHIONE S-TRANSFERASE, MU-3; GSTM3 - OMIM
 
* 138390

GLUTATHIONE S-TRANSFERASE, MU-3; GSTM3


Alternative titles; symbols

GLUTATHIONE S-TRANSFERASE M3
BRAIN GST; GSTB
GLUTATHIONE S-TRANSFERASE 5; GST5


HGNC Approved Gene Symbol: GSTM3

Cytogenetic location: 1p13.3     Genomic coordinates (GRCh38): 1:109,733,937-109,741,038 (from NCBI)


TEXT

Description

The glutathione S-transferases (GST; EC 2.5.1.18) are a family of enzymes responsible for the metabolism of a broad range of xenobiotics and carcinogens. The GSTs form a superfamily whose dimeric proteins are encoded by several multigene families. See GSTM1 (138350) for additional background.


Cloning and Expression

In brain extracts, Van Cong et al. (1984) observed a novel GST band (GST5, or GSTM3) which is probably controlled by an independent gene. By immunoblotting, Campbell et al. (1990) identified GSTM3, a mu-class GST with an isoelectric point of 5.2. GSTM1 is prevalent in testis and found in cerebral cortex but not liver. Campbell et al. (1990) detected GSTM3 in all 13 testes and 28 brain samples tested, including those from individuals devoid of GSTM1 because of a GSTM1 gene deletion. These authors cloned GSTM3 cDNAs from human brain and testis cDNA libraries. The predicted 225-amino acid protein shares 72% sequence similarity with GSTM1.


Mapping

Gough et al. (1994) used oligonucleotide primers specific for exons 4 and 5 sequences to amplify a unique 199-bp fragment in the human GSTM3 gene. Using this fragment for the analysis of DNA from a panel of somatic cell hybrids, they assigned the GSTM3 locus to chromosome 1p. Pearson et al. (1993) isolated a YAC clone containing all 5 GSTM genes, GSTM1-5; using this clone, they mapped all of these genes to 1p13.3 by fluorescence in situ hybridization.


Molecular Genetics

Inskip et al. (1995) demonstrated allelism in the GSTM3 gene using PCR with specific primers to exon 6 and exon 7. Sequencing showed the mutant GSTM3*B allele to have a 3-bp deletion in intron 6 with a frequency of 0.158. GSTM3*B was significantly associated with the GSTM1*A allele at the closely linked GSTM1 locus (138350).


REFERENCES

  1. Campbell, E., Takahashi, Y., Abramovitz, M., Peretz, M., Listowsky, I. A distinct human testis and brain mu-class glutathione S-transferase: molecular cloning and characterization of a form present even in individuals lacking hepatic type mu isoenzymes. J. Biol. Chem. 265: 9188-9193, 1990. [PubMed: 2345169, related citations]

  2. Gough, A. C., Zhong, S., Wolf, C. R., Spurr, N. K. Chromosome assignment of the human glutathione S-transferase mu-3 gene (GSTM3) to chromosome 1 by gene specific polymerase chain reaction. Cytogenet. Cell Genet. 65: 111-114, 1994. [PubMed: 8404061, related citations] [Full Text]

  3. Inskip, A., Elexperu-Camiruaga, J., Buxton, N., Dias, P. S., MacIntosh, J., Campbell, D., Jones, P. W., Yengi, L., Talbot, J. A., Strange, R. C., Fryer, A. A. Identification of polymorphism at the glutathione S-transferase, GSTM3 locus: evidence for linkage with GSTM1*A. Biochem. J. 312: 713-716, 1995. [PubMed: 8554510, related citations] [Full Text]

  4. Pearson, W. R., Vorachek, W. R., Xu, S., Berger, R., Hart, I., Vannais, D., Patterson, D. Identification of class-mu glutathione transferase genes GSTM1-GSTM5 on human chromosome 1p13. Am. J. Hum. Genet. 53: 220-233, 1993. [PubMed: 8317488, related citations]

  5. Van Cong, N., Laisney, V., Gross, M. S., Frezal, J. Glutathione-S-transferases--tissues distribution, number of loci, polymorphism, chromosome localization. (Abstract) Cytogenet. Cell Genet. 37: 554, 1984.


Contributors:
Rebekah S. Rasooly - updated : 6/16/1998
Creation Date:
Victor A. McKusick : 6/4/1986
carol : 06/23/2016
carol : 9/22/2008
psherman : 6/17/1998
psherman : 6/16/1998
psherman : 6/16/1998
alopez : 2/6/1998
terry : 4/15/1996
terry : 4/8/1996
carol : 5/11/1994
carol : 12/22/1993
carol : 12/20/1993
carol : 10/13/1993
carol : 10/15/1992
supermim : 3/16/1992

* 138390

GLUTATHIONE S-TRANSFERASE, MU-3; GSTM3


Alternative titles; symbols

GLUTATHIONE S-TRANSFERASE M3
BRAIN GST; GSTB
GLUTATHIONE S-TRANSFERASE 5; GST5


HGNC Approved Gene Symbol: GSTM3

Cytogenetic location: 1p13.3     Genomic coordinates (GRCh38): 1:109,733,937-109,741,038 (from NCBI)


TEXT

Description

The glutathione S-transferases (GST; EC 2.5.1.18) are a family of enzymes responsible for the metabolism of a broad range of xenobiotics and carcinogens. The GSTs form a superfamily whose dimeric proteins are encoded by several multigene families. See GSTM1 (138350) for additional background.


Cloning and Expression

In brain extracts, Van Cong et al. (1984) observed a novel GST band (GST5, or GSTM3) which is probably controlled by an independent gene. By immunoblotting, Campbell et al. (1990) identified GSTM3, a mu-class GST with an isoelectric point of 5.2. GSTM1 is prevalent in testis and found in cerebral cortex but not liver. Campbell et al. (1990) detected GSTM3 in all 13 testes and 28 brain samples tested, including those from individuals devoid of GSTM1 because of a GSTM1 gene deletion. These authors cloned GSTM3 cDNAs from human brain and testis cDNA libraries. The predicted 225-amino acid protein shares 72% sequence similarity with GSTM1.


Mapping

Gough et al. (1994) used oligonucleotide primers specific for exons 4 and 5 sequences to amplify a unique 199-bp fragment in the human GSTM3 gene. Using this fragment for the analysis of DNA from a panel of somatic cell hybrids, they assigned the GSTM3 locus to chromosome 1p. Pearson et al. (1993) isolated a YAC clone containing all 5 GSTM genes, GSTM1-5; using this clone, they mapped all of these genes to 1p13.3 by fluorescence in situ hybridization.


Molecular Genetics

Inskip et al. (1995) demonstrated allelism in the GSTM3 gene using PCR with specific primers to exon 6 and exon 7. Sequencing showed the mutant GSTM3*B allele to have a 3-bp deletion in intron 6 with a frequency of 0.158. GSTM3*B was significantly associated with the GSTM1*A allele at the closely linked GSTM1 locus (138350).


REFERENCES

  1. Campbell, E., Takahashi, Y., Abramovitz, M., Peretz, M., Listowsky, I. A distinct human testis and brain mu-class glutathione S-transferase: molecular cloning and characterization of a form present even in individuals lacking hepatic type mu isoenzymes. J. Biol. Chem. 265: 9188-9193, 1990. [PubMed: 2345169]

  2. Gough, A. C., Zhong, S., Wolf, C. R., Spurr, N. K. Chromosome assignment of the human glutathione S-transferase mu-3 gene (GSTM3) to chromosome 1 by gene specific polymerase chain reaction. Cytogenet. Cell Genet. 65: 111-114, 1994. [PubMed: 8404061] [Full Text: https://doi.org/10.1159/000133613]

  3. Inskip, A., Elexperu-Camiruaga, J., Buxton, N., Dias, P. S., MacIntosh, J., Campbell, D., Jones, P. W., Yengi, L., Talbot, J. A., Strange, R. C., Fryer, A. A. Identification of polymorphism at the glutathione S-transferase, GSTM3 locus: evidence for linkage with GSTM1*A. Biochem. J. 312: 713-716, 1995. [PubMed: 8554510] [Full Text: https://doi.org/10.1042/bj3120713]

  4. Pearson, W. R., Vorachek, W. R., Xu, S., Berger, R., Hart, I., Vannais, D., Patterson, D. Identification of class-mu glutathione transferase genes GSTM1-GSTM5 on human chromosome 1p13. Am. J. Hum. Genet. 53: 220-233, 1993. [PubMed: 8317488]

  5. Van Cong, N., Laisney, V., Gross, M. S., Frezal, J. Glutathione-S-transferases--tissues distribution, number of loci, polymorphism, chromosome localization. (Abstract) Cytogenet. Cell Genet. 37: 554, 1984.


Contributors:
Rebekah S. Rasooly - updated : 6/16/1998

Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 06/23/2016
carol : 9/22/2008
psherman : 6/17/1998
psherman : 6/16/1998
psherman : 6/16/1998
alopez : 2/6/1998
terry : 4/15/1996
terry : 4/8/1996
carol : 5/11/1994
carol : 12/22/1993
carol : 12/20/1993
carol : 10/13/1993
carol : 10/15/1992
supermim : 3/16/1992