Exon structure and flanking intronic sequences of the human RET proto-oncogene

I. Ceccherini, R. Bocciardi, Y. Luo, B. Pasini, R. Hofstra, M. Takahashi, G. Romeo

Research output: Contribution to journalArticle

Abstract

Using a PCR strategy based on an initial set of 15 couples of primers designed from the known cDNA sequence, we identified 18 introns in the human RET proto-oncogene and sequenced the corresponding 5' and 3' exon-intron junctions. This approach was successful in locating all the introns contained in fragments short enough to be amplified by PCR. Thus 19 exons were identified which, together with the previously reported exon subjected to alternative splicing, brings the total number of RET exons to 20. This information is relevant for the screening of recently reported missense mutations of RET which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A.

Original languageEnglish
Pages (from-to)1288-1295
Number of pages8
JournalBiochemical and Biophysical Research Communications
Volume196
Issue number3
DOIs
Publication statusPublished - 1993

Fingerprint

Proto-Oncogenes
Exons
Introns
Multiple Endocrine Neoplasia
Polymerase Chain Reaction
Hirschsprung Disease
Neural Crest
Alternative Splicing
Missense Mutation
Point Mutation
Screening
Complementary DNA
Genes

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Cite this

Exon structure and flanking intronic sequences of the human RET proto-oncogene. / Ceccherini, I.; Bocciardi, R.; Luo, Y.; Pasini, B.; Hofstra, R.; Takahashi, M.; Romeo, G.

In: Biochemical and Biophysical Research Communications, Vol. 196, No. 3, 1993, p. 1288-1295.

Research output: Contribution to journalArticle

Ceccherini, I. ; Bocciardi, R. ; Luo, Y. ; Pasini, B. ; Hofstra, R. ; Takahashi, M. ; Romeo, G. / Exon structure and flanking intronic sequences of the human RET proto-oncogene. In: Biochemical and Biophysical Research Communications. 1993 ; Vol. 196, No. 3. pp. 1288-1295.
@article{e4832ded053c48cf85bc2c7925f21e89,
title = "Exon structure and flanking intronic sequences of the human RET proto-oncogene",
abstract = "Using a PCR strategy based on an initial set of 15 couples of primers designed from the known cDNA sequence, we identified 18 introns in the human RET proto-oncogene and sequenced the corresponding 5' and 3' exon-intron junctions. This approach was successful in locating all the introns contained in fragments short enough to be amplified by PCR. Thus 19 exons were identified which, together with the previously reported exon subjected to alternative splicing, brings the total number of RET exons to 20. This information is relevant for the screening of recently reported missense mutations of RET which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A.",
author = "I. Ceccherini and R. Bocciardi and Y. Luo and B. Pasini and R. Hofstra and M. Takahashi and G. Romeo",
year = "1993",
doi = "10.1006/bbrc.1993.2392",
language = "English",
volume = "196",
pages = "1288--1295",
journal = "Biochemical and Biophysical Research Communications",
issn = "0006-291X",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Exon structure and flanking intronic sequences of the human RET proto-oncogene

AU - Ceccherini, I.

AU - Bocciardi, R.

AU - Luo, Y.

AU - Pasini, B.

AU - Hofstra, R.

AU - Takahashi, M.

AU - Romeo, G.

PY - 1993

Y1 - 1993

N2 - Using a PCR strategy based on an initial set of 15 couples of primers designed from the known cDNA sequence, we identified 18 introns in the human RET proto-oncogene and sequenced the corresponding 5' and 3' exon-intron junctions. This approach was successful in locating all the introns contained in fragments short enough to be amplified by PCR. Thus 19 exons were identified which, together with the previously reported exon subjected to alternative splicing, brings the total number of RET exons to 20. This information is relevant for the screening of recently reported missense mutations of RET which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A.

AB - Using a PCR strategy based on an initial set of 15 couples of primers designed from the known cDNA sequence, we identified 18 introns in the human RET proto-oncogene and sequenced the corresponding 5' and 3' exon-intron junctions. This approach was successful in locating all the introns contained in fragments short enough to be amplified by PCR. Thus 19 exons were identified which, together with the previously reported exon subjected to alternative splicing, brings the total number of RET exons to 20. This information is relevant for the screening of recently reported missense mutations of RET which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A.

UR - http://www.scopus.com/inward/record.url?scp=0027371670&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027371670&partnerID=8YFLogxK

U2 - 10.1006/bbrc.1993.2392

DO - 10.1006/bbrc.1993.2392

M3 - Article

C2 - 7902707

AN - SCOPUS:0027371670

VL - 196

SP - 1288

EP - 1295

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 0006-291X

IS - 3

ER -