Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region

Anna Ruiz, Marga Nadal, Susana Puig, Xavier P. Estivill

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Cutaneous malignant melanoma (CMM) is a common skin cancer. About 50% of CMM sporadic tumours have lost one copy of the chromosome 9p21 region. To identify genes involved in the initiation and/or progression of CMM we have characterised the 9p21 melanoma deleted region and screened the human expressed sequence tag ( EST) databases (dbEST) to search for expressed genes. We have identified the gene that encodes the human orthologue of the rat phospholipase A2 activating protein (PLAP). PLAP was considered a potential candidate to be involved in malignant melanoma because it maps to the critical region for CMM and because the PLA2 gene has been identified as a modifier of the APC gene, responsible for the adenomatous polyposis phenotype in the mouse. PLAP encodes a protein of 738 amino acids and has a high DNA (90%) and protein (97%) sequence similarity with the rat and mouse PLAP protein. PLAP has a region of WD40 repeats in the amino-terminus, which allows us to include this protein in the superfamily of β-transducin proteins. Northern blot hybridisation gave a fragment of 4.5 kb, with higher expression in heart compared to other tissues. PLAP was localised at chromosome 9p21, between marker AFM218xg11 and TEK. SSCP analysis of the coding region of PLAP revealed no variants in the studied samples, but one of six CMM samples analysed by RT-PCR showed specific inactivation of PLAP. Despite PLAP s important role in mediating several cellular responses and its localisation to the chromosome 9p21 region deleted in CMM, it is unlikely that point mutations or deletions in the coding region of PLAP are responsible for the initiation or progression of CMM. Further studies on PLAP inactivation should be performed to clarify its potential involvement in CMM. (C) 1999 Elsevier Science B.V. All rights reserved.

Original languageEnglish
Pages (from-to)155-161
Number of pages7
JournalGene
Volume239
Issue number1
DOIs
Publication statusPublished - 18 Oct 1999
Externally publishedYes

Fingerprint

Organism Cloning
Melanoma
Chromosomes
Genes
Proteins
phospholipase A2-activating protein
Modifier Genes
Transducin
APC Genes
Single-Stranded Conformational Polymorphism
Cutaneous Malignant Melanoma
Expressed Sequence Tags
Skin Neoplasms
Point Mutation
Northern Blotting
Databases
Phenotype
Amino Acids
Polymerase Chain Reaction
DNA

Keywords

  • CMM
  • dbEST
  • Orthologue
  • Similarity

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics

Cite this

Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region. / Ruiz, Anna; Nadal, Marga; Puig, Susana; Estivill, Xavier P.

In: Gene, Vol. 239, No. 1, 18.10.1999, p. 155-161.

Research output: Contribution to journalArticle

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