POINT MUTATION OF THE RET PROTOONCOGENE IN THE TT HUMAN MEDULLARY-THYROID CARCINOMA CELL-LINE

被引：65

作者：

CARLOMAGNO, F

SALVATORE, D

SANTORO, M

DEFRANCISCIS, V

QUADRO, L

PANARIELLO, L

COLANTUONI, V

FUSCO, A

机构：

[1] UNIV NAPLES, CNR, FAC MED CHIRURG, CTR ENDOCRINOL & ONCOL SPERIMENT, I-80131 NAPLES, ITALY

[2] UNIV NAPLES, CTR INGN GENET, DIPARTIMENTO BIOCHIM & BIOTECNOL MED, I-80131 NAPLES, ITALY

[3] UNIV REGGIO CALABRIA, FAC MED & CHIRURG CATANZARO, DIPARTIMENTO MED SPERIMENTALE & CLIN, I-88100 CATANZARO, ITALY

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1995年 / 207卷 / 03期

关键词：

D O I：

10.1006/bbrc.1995.1287

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The RET proto-oncogene encodes a tyrosine-kinase receptor specifically expressed in tissues of neuroectodermal origin. Recently specific point mutations of RET have been demonstrated to be responsible for the Multiple Endocrine Neoplasia type 2A and 2B and Familial Medullary Thyroid Carcinoma syndromes, characterized by the occurrence of medullary thyroid carcinomas. Here we report that a human medullary thyroid carcinoma cell line, the TT cell line, harbours a MEN2A-type mutation, specifically a cysteine to triptophan substitution at the level of the RET codon 634. This mutation is heterozygous and both normal and mutated alleles are expressed. We suggest that the TT cell line could be a useful cell system to investigate the role played by the RET oncogene in the transformation and differentiation of human thyroid C-cells. (C) 1995 Academic Press, Inc.

引用

页码：1022 / 1028

页数：7

共 34 条

[1]

AVANTAGGIATO V, 1994, CELL GROWTH DIFFER, V5, P305

[2] MOLECULAR CHARACTERIZATION OF A THYROID TUMOR-SPECIFIC TRANSFORMING SEQUENCE FORMED BY THE FUSION OF RET TYROSINE KINASE AND THE REGULATORY SUBUNIT RI-ALPHA OF CYCLIC AMP-DEPENDENT PROTEIN KINASE-A [J].

BONGARZONE, I ;

MONZINI, N ;

BORRELLO, MG ;

CARCANO, C ;

FERRARESI, G ;

ARIGHI, E ;

MONDELLINI, P ;

DELLAPORTA, G ;

PIEROTTI, MA .

MOLECULAR AND CELLULAR BIOLOGY, 1993, 13 (01) :358-366

[3] TRK AND RET PROTOONCOGENE EXPRESSION IN HUMAN NEUROBLASTOMA SPECIMENS - HIGH-FREQUENCY OF TRK EXPRESSION IN NON-ADVANCED STAGES [J].

BORRELLO, MG ;

BONGARZONE, I ;

PIEROTTI, MA ;

LUKSCH, R ;

GASPARINI, M ;

COLLINI, P ;

PILOTTI, S ;

RIZZETTI, MG ;

MONDELLINI, P ;

DEBERNARDI, B ;

DIMARTINO, D ;

GARAVENTA, A ;

BRISIGOTTI, M ;

TONINI, GP .

INTERNATIONAL JOURNAL OF CANCER, 1993, 54 (04) :540-545

[4] SINGLE MISSENSE MUTATION IN THE TYROSINE KINASE CATALYTIC DOMAIN OF THE RET PROTOONCOGENE IS ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B [J].

CARLSON, KM ;

DOU, SS ;

CHI, D ;

SCAVARDA, N ;

TOSHIMA, K ;

JACKSON, CE ;

WELLS, SA ;

GOODFELLOW, PJ ;

DONISKELLER, H .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (04) :1579-1583

[5]

CECCHERINI I, 1994, ONCOGENE, V9, P3025

[6]

CHOMCZYNSKI P, 1987, ANAL BIOCHEM, V162, P156, DOI 10.1016/0003-2697(87)90021-2

[7]

DEBUSTROS A, 1985, J BIOL CHEM, V260, P98

[8]

DEBUSTROS A, 1986, J BIOL CHEM, V261, P8036

[9] MUTATIONS IN THE RET PROTOONCOGENE ARE ASSOCIATED WITH MEN 2A AND FMTC [J].

DONISKELLER, H ;

DOU, SS ;

CHI, D ;

CARLSON, KM ;

TOSHIMA, K ;

LAIRMORE, TC ;

HOWE, JR ;

MOLEY, JF ;

GOODFELLOW, P ;

WELLS, SA .

HUMAN MOLECULAR GENETICS, 1993, 2 (07) :851-856

[10] MUTATIONS OF THE RET PROTOONCOGENE IN HIRSCHSPRUNGS-DISEASE [J].

EDERY, P ;

LYONNET, S ;

MULLIGAN, LM ;

PELET, A ;

DOW, E ;

ABEL, L ;

HOLDER, S ;

NIHOULFEKETE, C ;

PONDER, BAJ ;

MUNNICH, A .

NATURE, 1994, 367 (6461) :378-380

← 1 2 3 4 →