A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is localized within the human Menkes disease gene (ATP7 A) - PubMed

A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is localized within the human Menkes disease gene (ATP7 A)

H A Dierick et al. Gene. 1997.

Abstract

We have identified a phosphoglycerate mutase brain isoform (PGAM 1, PGAM B) cDNA that is localized between exons 1 and 2 of the Menkes disease gene (ATP7 A, MNK) at Xq13.3. The cDNA shows 98% identity to the previously identified PGAM 1 cDNA (Sakoda et al., J. Biol. Chem. 263 (1988) 16899-16905) and probably represents a recent retroposition of this parent PGAM 1 mRNA. Although the typical features of a processed pseudogene are present, the open reading frame (ORF) of this PGAM cDNA is potentially expressed. There are 11 bp changes in the 765 bp ORF, none of which are nonsense mutations or deletions. The region upstream from the ORF shows some features of a possible promoter region, although it lacks a CpG island often associated with functional promoters. We analyzed the expression of this PGAM 1 cDNA using RT-PCR followed by restriction enzyme digestion based on a 1 bp missmatch in this cDNA to distinguish it from normal PGAM 1 gene expression. With this sensitive method, we could not find expression in any of the tissues examined. Taken together, we conclude that the PGAM 1 cDNA upstream from exon 2 of the Menkes gene is likely to be a processed pseudogene originating from a very recent retroposition of a PGAM 1 transcript. To our knowledge this is the first report of a pseudogene located within a gene.

Similar articles

• Molecular structure of the Menkes disease gene (ATP7A).

  Dierick HA, Ambrosini L, Spencer J, Glover TW, Mercer JF. Dierick HA, et al. Genomics. 1995 Aug 10;28(3):462-9. doi: 10.1006/geno.1995.1175. Genomics. 1995. PMID: 7490081

• Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA.

  Reddy MC, Harris ED. Reddy MC, et al. Biochem J. 1998 Aug 15;334 ( Pt 1)(Pt 1):71-7. doi: 10.1042/bj3340071. Biochem J. 1998. PMID: 9693104 Free PMC article.

• Mouse phosphoglycerate mutase M and B isozymes: cDNA cloning, enzyme activity assay and mapping.

  Zhang J, Yu L, Fu Q, Gao J, Xie Y, Chen J, Zhang P, Liu Q, Zhao S. Zhang J, et al. Gene. 2001 Feb 21;264(2):273-9. doi: 10.1016/s0378-1119(00)00597-7. Gene. 2001. PMID: 11250083

• Functional analysis of the Menkes protein (MNK) expressed from a cDNA construct.

  La Fontaine S, Firth SD, Lockhart PJ, Brooks H, Camakaris J, Mercer JF. La Fontaine S, et al. Adv Exp Med Biol. 1999;448:67-82. doi: 10.1007/978-1-4615-4859-1_6. Adv Exp Med Biol. 1999. PMID: 10079816 Review. No abstract available.

• Multiple forms of the Menkes Cu-ATPase.

  Harris ED, Reddy MC, Qian Y, Tiffany-Castiglioni E, Majumdar S, Nelson J. Harris ED, et al. Adv Exp Med Biol. 1999;448:39-51. doi: 10.1007/978-1-4615-4859-1_4. Adv Exp Med Biol. 1999. PMID: 10079814 Review.

Cited by

• MALAT1-regulated gene expression profiling in lung cancer cell lines.

  Roh J, Kim B, Im M, Jang W, Chae Y, Kang J, Youn B, Kim W. Roh J, et al. BMC Cancer. 2023 Sep 4;23(1):818. doi: 10.1186/s12885-023-11347-7. BMC Cancer. 2023. PMID: 37667226 Free PMC article.

• A single nucleotide polymorphism within the novel sex-linked testis-specific retrotransposed PGAM4 gene influences human male fertility.

  Okuda H, Tsujimura A, Irie S, Yamamoto K, Fukuhara S, Matsuoka Y, Takao T, Miyagawa Y, Nonomura N, Wada M, Tanaka H. Okuda H, et al. PLoS One. 2012;7(5):e35195. doi: 10.1371/journal.pone.0035195. Epub 2012 May 9. PLoS One. 2012. PMID: 22590500 Free PMC article. Clinical Trial.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Elsevier Science

• Other Literature Sources

  • The Lens - Patent Citations Database