Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus

Justin S. Smith, Issei Tachibana, Cory Allen, Sharon A. Chiappa, Hyun K. Lee, Bryan McIver, Robert Brian Jenkins, Corey Raffel

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Allelic loss of 17p13.3 is observed in approximately 40% of medulloblastomas, suggesting the presence of a tumor suppressor gene in this region. Deletion mapping has defined a region of common loss flanking the telomeric marker D17S34, and a recent report delineated a 9-kb homozygous deletion within the D17S34 locus in one such tumor. Using cDNA selection, we have identified a transcript spanning this deletion, designated (HSA)RPH3AL (rabphillin-3A-like), based on its 77% overall amino acid identity with a recently cloned rat gene, (RNO)Rph3al (originally termed Noc2), a gene putatively involved in regulated endocrine exocytosis through its interactions with the cytoskeleton. We determined the exon-intron boundaries of RPH3AL and screened the coding region for mutations by direct sequencing in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9 ovarian cancer specimens. No mutations were identified. Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer.

Original languageEnglish (US)
Pages (from-to)97-101
Number of pages5
JournalGenomics
Volume59
Issue number1
DOIs
StatePublished - Jul 1 1999

Fingerprint

Medulloblastoma
Organism Cloning
Loss of Heterozygosity
Ovarian Neoplasms
Genes
Neoplasms
Mutation
Exocytosis
Tumor Suppressor Genes
Cytoskeleton
DNA Sequence Analysis
Introns
Exons
Carcinogenesis
Complementary DNA
Amino Acids
Follicular Thyroid cancer

ASJC Scopus subject areas

  • Genetics

Cite this

Smith, J. S., Tachibana, I., Allen, C., Chiappa, S. A., Lee, H. K., McIver, B., ... Raffel, C. (1999). Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus. Genomics, 59(1), 97-101. https://doi.org/10.1006/geno.1999.5864

Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus. / Smith, Justin S.; Tachibana, Issei; Allen, Cory; Chiappa, Sharon A.; Lee, Hyun K.; McIver, Bryan; Jenkins, Robert Brian; Raffel, Corey.

In: Genomics, Vol. 59, No. 1, 01.07.1999, p. 97-101.

Research output: Contribution to journalArticle

Smith, JS, Tachibana, I, Allen, C, Chiappa, SA, Lee, HK, McIver, B, Jenkins, RB & Raffel, C 1999, 'Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus', Genomics, vol. 59, no. 1, pp. 97-101. https://doi.org/10.1006/geno.1999.5864
Smith, Justin S. ; Tachibana, Issei ; Allen, Cory ; Chiappa, Sharon A. ; Lee, Hyun K. ; McIver, Bryan ; Jenkins, Robert Brian ; Raffel, Corey. / Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus. In: Genomics. 1999 ; Vol. 59, No. 1. pp. 97-101.
@article{217801a2787f4d8c81fca2d2ad0607c9,
title = "Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus",
abstract = "Allelic loss of 17p13.3 is observed in approximately 40{\%} of medulloblastomas, suggesting the presence of a tumor suppressor gene in this region. Deletion mapping has defined a region of common loss flanking the telomeric marker D17S34, and a recent report delineated a 9-kb homozygous deletion within the D17S34 locus in one such tumor. Using cDNA selection, we have identified a transcript spanning this deletion, designated (HSA)RPH3AL (rabphillin-3A-like), based on its 77{\%} overall amino acid identity with a recently cloned rat gene, (RNO)Rph3al (originally termed Noc2), a gene putatively involved in regulated endocrine exocytosis through its interactions with the cytoskeleton. We determined the exon-intron boundaries of RPH3AL and screened the coding region for mutations by direct sequencing in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9 ovarian cancer specimens. No mutations were identified. Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer.",
author = "Smith, {Justin S.} and Issei Tachibana and Cory Allen and Chiappa, {Sharon A.} and Lee, {Hyun K.} and Bryan McIver and Jenkins, {Robert Brian} and Corey Raffel",
year = "1999",
month = "7",
day = "1",
doi = "10.1006/geno.1999.5864",
language = "English (US)",
volume = "59",
pages = "97--101",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus

AU - Smith, Justin S.

AU - Tachibana, Issei

AU - Allen, Cory

AU - Chiappa, Sharon A.

AU - Lee, Hyun K.

AU - McIver, Bryan

AU - Jenkins, Robert Brian

AU - Raffel, Corey

PY - 1999/7/1

Y1 - 1999/7/1

N2 - Allelic loss of 17p13.3 is observed in approximately 40% of medulloblastomas, suggesting the presence of a tumor suppressor gene in this region. Deletion mapping has defined a region of common loss flanking the telomeric marker D17S34, and a recent report delineated a 9-kb homozygous deletion within the D17S34 locus in one such tumor. Using cDNA selection, we have identified a transcript spanning this deletion, designated (HSA)RPH3AL (rabphillin-3A-like), based on its 77% overall amino acid identity with a recently cloned rat gene, (RNO)Rph3al (originally termed Noc2), a gene putatively involved in regulated endocrine exocytosis through its interactions with the cytoskeleton. We determined the exon-intron boundaries of RPH3AL and screened the coding region for mutations by direct sequencing in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9 ovarian cancer specimens. No mutations were identified. Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer.

AB - Allelic loss of 17p13.3 is observed in approximately 40% of medulloblastomas, suggesting the presence of a tumor suppressor gene in this region. Deletion mapping has defined a region of common loss flanking the telomeric marker D17S34, and a recent report delineated a 9-kb homozygous deletion within the D17S34 locus in one such tumor. Using cDNA selection, we have identified a transcript spanning this deletion, designated (HSA)RPH3AL (rabphillin-3A-like), based on its 77% overall amino acid identity with a recently cloned rat gene, (RNO)Rph3al (originally termed Noc2), a gene putatively involved in regulated endocrine exocytosis through its interactions with the cytoskeleton. We determined the exon-intron boundaries of RPH3AL and screened the coding region for mutations by direct sequencing in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9 ovarian cancer specimens. No mutations were identified. Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer.

UR - http://www.scopus.com/inward/record.url?scp=0033166150&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033166150&partnerID=8YFLogxK

U2 - 10.1006/geno.1999.5864

DO - 10.1006/geno.1999.5864

M3 - Article

C2 - 10395805

AN - SCOPUS:0033166150

VL - 59

SP - 97

EP - 101

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 1

ER -