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ABSTRACT hSmad (mothers against decapentaplegic)-related proteins are important messengers within the Transforming Growth Factor-β1 (TGF-β1) superfamily signal transduction pathways. To

further characterize a member of this family, we obtained a full length cDNA of the human _HSMAD5_ (_HSMAD5_) gene by rapid amplification of cDNA ends (RACE) and then determined the genomic

structure of the gene. There are eight exons and two alternative transcripts; the shorter transcript lacks exon 2. We identified the _HSMAD5_ promoter region from a human genomic YAC clone

by obtaining the nucleotide sequence extending 1235 base pairs upstream of the 5′ end of the cDNA. We found a CpG island consistent with a promoter region, and we demonstrated promoter

activity in a 1232 bp fragment located upstream of the transcription initiation site. To investigate the frequency of somatic _HSMAD5_ mutations in human cancers, we designed intron-based

primers to examine coding regions by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. Neither homozygous deletions or point mutations were found in 40

primary gastric tumors and 51 cell lines derived from diverse types of human cancer including 20 cell lines resistant to the growth inhibitory effects of TGF-β1. These results suggest that

the _HSMAD5_ gene is not commonly mutated and that other genetic alterations mediate the loss of TGF-β1 responsiveness in human cancers. Access through your institution Buy or subscribe This

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STUDIES CONTROVERT THE EXISTENCE OF THE CUX1 P75 ISOFORM Article Open access 07 January 2022 THE LANDSCAPE AND DRIVER POTENTIAL OF SITE-SPECIFIC HOTSPOTS ACROSS CANCER GENOMES Article Open

access 13 May 2021 IDENTIFICATION OF NON-CODING SILENCER ELEMENTS AND THEIR REGULATION OF GENE EXPRESSION Article 07 November 2022 AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Division of

Basic Sciences, Laboratory of Human Carcinogenesis, National Cancer Institute, NIH, Bethesda, 20892-4255, Maryland, USA Akihiko Gemma, Koichi Hagiwara, Amy R Hancock, Makoto Nagashima, 

William P Bennett & Curtis C Harris * Laboratoire d'Ecotoxicologie, IFREMER, rue de l'εle d'Yeu, BP21105, NANTES, cedex 03 44311, France Francoise Vincent * School of

Oncology, Beijing Medical University, West-4, Western District, Beijing, 100034, China Yang Ke Authors * Akihiko Gemma View author publications You can also search for this author inPubMed 

Google Scholar * Koichi Hagiwara View author publications You can also search for this author inPubMed Google Scholar * Francoise Vincent View author publications You can also search for

this author inPubMed Google Scholar * Yang Ke View author publications You can also search for this author inPubMed Google Scholar * Amy R Hancock View author publications You can also

search for this author inPubMed Google Scholar * Makoto Nagashima View author publications You can also search for this author inPubMed Google Scholar * William P Bennett View author

publications You can also search for this author inPubMed Google Scholar * Curtis C Harris View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND

PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Gemma, A., Hagiwara, K., Vincent, F. _et al._ _HSMAD5_ gene, a human hSmad family member: its full length cDNA,

genomic structure, promoter region and mutation analysis in human tumors. _Oncogene_ 16, 951–956 (1998). https://doi.org/10.1038/sj.onc.1201614 Download citation * Received: 22 July 1997 *

Revised: 30 September 1997 * Accepted: 30 September 1997 * Published: 03 March 1998 * Issue Date: 19 February 1998 * DOI: https://doi.org/10.1038/sj.onc.1201614 SHARE THIS ARTICLE Anyone you

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Springer Nature SharedIt content-sharing initiative KEYWORDS * transforming growth factor-β * cDNA * genomic structure * PCR-SSCP