A highly conserved processed PTEN pseudogene is located on chromosome band 9p21

Patricia L.M. Dahia; Michael G. Fitzgerald; Xue Zhang; Debbie J. Marsh; Zimu Zheng; Torsten Pietsch; Andreas Von Deimling; Frank G. Haluska; Daniel A. Haber; Charis Eng

doi:10.1038/sj.onc.1201762

A highly conserved processed PTEN pseudogene is located on chromosome band 9p21

Patricia L.M. Dahia, Michael G. Fitzgerald, Xue Zhang, Debbie J. Marsh, Zimu Zheng, Torsten Pietsch, Andreas Von Deimling, Frank G. Haluska, Daniel A. Haber, Charis Eng

Research output: Contribution to journal › Article › peer-review

76 Scopus citations

Abstract

PTEN/MMAC1/TEP1, encoding a dual-specificity phosphatase, is a tumor suppressor gene which has recently been cloned and mapped to chromosome 10q23.3. We have shown that germline mutations of PTEN are present in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a predisposition to breast and thyroid cancers, and Bannayan-Zonana syndrome. Somatic mutations of PTEN have been reported in a variety of human cancer cell lines, suggesting a potential role for this gene in the pathogenesis of human malignancies. We report the identification of a highly conserved PTEN processed pseudogene, ψPTEN, which shares over 98% homology with the coding region of functional PTEN, and its localisation to chromosome 9p21. The high sequence homology of ψPTEN with the PTEN transcript may potentially lead to misinterpretation when performing mutation analyses based on cDNA templates. Caution should be exerted when using such screening approaches.

Original language	English (US)
Pages (from-to)	2403-2406
Number of pages	4
Journal	Oncogene
Volume	16
Issue number	18
DOIs	https://doi.org/10.1038/sj.onc.1201762
State	Published - May 7 1998
Externally published	Yes

Keywords

9p
Cowden
MMAC1
Pseudogene
TEP1

ASJC Scopus subject areas

Genetics
Molecular Biology
Cancer Research

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10.1038/sj.onc.1201762

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title = "A highly conserved processed PTEN pseudogene is located on chromosome band 9p21",

abstract = "PTEN/MMAC1/TEP1, encoding a dual-specificity phosphatase, is a tumor suppressor gene which has recently been cloned and mapped to chromosome 10q23.3. We have shown that germline mutations of PTEN are present in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a predisposition to breast and thyroid cancers, and Bannayan-Zonana syndrome. Somatic mutations of PTEN have been reported in a variety of human cancer cell lines, suggesting a potential role for this gene in the pathogenesis of human malignancies. We report the identification of a highly conserved PTEN processed pseudogene, ψPTEN, which shares over 98% homology with the coding region of functional PTEN, and its localisation to chromosome 9p21. The high sequence homology of ψPTEN with the PTEN transcript may potentially lead to misinterpretation when performing mutation analyses based on cDNA templates. Caution should be exerted when using such screening approaches.",

keywords = "9p, Cowden, MMAC1, Pseudogene, TEP1",

author = "Dahia, {Patricia L.M.} and Fitzgerald, {Michael G.} and Xue Zhang and Marsh, {Debbie J.} and Zimu Zheng and Torsten Pietsch and {Von Deimling}, Andreas and Haluska, {Frank G.} and Haber, {Daniel A.} and Charis Eng",

note = "Funding Information: We thank Ricardo Aguiar for helpful discussions. This study was supported by the American Cancer Society (RPG-97-064-01VM), the Markey Charitable Trust, the Barr Investigatorship and the Lawrence and Susan Marx Investigatorship in Human Cancer Genetics (to CE); the Susan G Komen Breast Cancer Foundation (to PLMD and CE); and the Deutsche Forschungsgemeinschaft -SFB400 (to TP). Genbank Accession No. AF040103.",

year = "1998",

month = may,

day = "7",

doi = "10.1038/sj.onc.1201762",

language = "English (US)",

volume = "16",

pages = "2403--2406",

journal = "Oncogene",

issn = "0950-9232",

publisher = "Nature Publishing Group",

number = "18",

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AU - Dahia, Patricia L.M.

AU - Fitzgerald, Michael G.

AU - Zhang, Xue

AU - Marsh, Debbie J.

AU - Zheng, Zimu

AU - Pietsch, Torsten

AU - Von Deimling, Andreas

AU - Haluska, Frank G.

AU - Haber, Daniel A.

AU - Eng, Charis

N1 - Funding Information: We thank Ricardo Aguiar for helpful discussions. This study was supported by the American Cancer Society (RPG-97-064-01VM), the Markey Charitable Trust, the Barr Investigatorship and the Lawrence and Susan Marx Investigatorship in Human Cancer Genetics (to CE); the Susan G Komen Breast Cancer Foundation (to PLMD and CE); and the Deutsche Forschungsgemeinschaft -SFB400 (to TP). Genbank Accession No. AF040103.

PY - 1998/5/7

Y1 - 1998/5/7

N2 - PTEN/MMAC1/TEP1, encoding a dual-specificity phosphatase, is a tumor suppressor gene which has recently been cloned and mapped to chromosome 10q23.3. We have shown that germline mutations of PTEN are present in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a predisposition to breast and thyroid cancers, and Bannayan-Zonana syndrome. Somatic mutations of PTEN have been reported in a variety of human cancer cell lines, suggesting a potential role for this gene in the pathogenesis of human malignancies. We report the identification of a highly conserved PTEN processed pseudogene, ψPTEN, which shares over 98% homology with the coding region of functional PTEN, and its localisation to chromosome 9p21. The high sequence homology of ψPTEN with the PTEN transcript may potentially lead to misinterpretation when performing mutation analyses based on cDNA templates. Caution should be exerted when using such screening approaches.

AB - PTEN/MMAC1/TEP1, encoding a dual-specificity phosphatase, is a tumor suppressor gene which has recently been cloned and mapped to chromosome 10q23.3. We have shown that germline mutations of PTEN are present in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a predisposition to breast and thyroid cancers, and Bannayan-Zonana syndrome. Somatic mutations of PTEN have been reported in a variety of human cancer cell lines, suggesting a potential role for this gene in the pathogenesis of human malignancies. We report the identification of a highly conserved PTEN processed pseudogene, ψPTEN, which shares over 98% homology with the coding region of functional PTEN, and its localisation to chromosome 9p21. The high sequence homology of ψPTEN with the PTEN transcript may potentially lead to misinterpretation when performing mutation analyses based on cDNA templates. Caution should be exerted when using such screening approaches.

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KW - Pseudogene

KW - TEP1

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A highly conserved processed PTEN pseudogene is located on chromosome band 9p21

Abstract

Keywords

ASJC Scopus subject areas

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