Identification of brain-specific splicing variants of the hdlg1 gene and altered splicing in neuroblastoma cell lines

ABSTRACT The human homologue of _Drosophila_ tumor suppressor dlg, hDLG1, is one of the proteins known to interact with APC, a tumor suppressor for colorectal cancer. Alternative splicing of

this gene generates transcripts either with [insertion 1 (I1)] or without 99 nucleotides in the 5′ part of the dlg homology repeats (DHR) domain. We found almost equivalent expression of

these two splicing variants in most human tissues; however, in skeletal muscle the transcript with the 99-bp insertion was predominant, and in the brain, that without the 99-bp insertion was

expressed predominantly. We also examined alternative splicing in the region between the SH3 and GUK domains where two different sizes of insertions, 34 nucleotides (I2) or 100 nucleotides

(I3), had been reported, and found various splicing patterns among the tissues examined. In brain we detected six different, alternatively spliced transcripts, two of which included a novel,

36-bp, brain-specific exon encoding a peptide bearing significant homology to a portion of rat synapse-associated protein, SAP97/PSD95. Subsequently, we investigated the splicing patterns

of the _hDLG1_ gene in 24 neuroblastoma cell lines. In two-thirds of these lines, the splicing patterns were altered from those observed in normal brain tissue. As one-third retained the

normal brain-splicing pattern, the loss of normal splicing of _hDLG1_ may not in itself cause formation of tumors, but it might reflect the biological character of individual neuroblastomas.

SIMILAR CONTENT BEING VIEWED BY OTHERS ALTERNATIVE SPLICING ACROSS THE _C. ELEGANS_ NERVOUS SYSTEM Article Open access 16 May 2025 DEFECTIVE MINOR SPLICEOSOMES INDUCE SMA-ASSOCIATED

PHENOTYPES THROUGH SENSITIVE INTRON-CONTAINING NEURAL GENES IN _DROSOPHILA_ Article Open access 05 November 2020 BROAD MISAPPROPRIATION OF DEVELOPMENTAL SPLICING PROFILE BY CANCER IN

MULTIPLE ORGANS Article Open access 12 December 2022 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical

Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan Tel. +81-3-5449-5372, Fax +81-3-5449-5433 e-mail: [email protected], Japan Y. Nakamura *

Division of Clinical Genetics, Department of Medical Genetics, Biomedical Research Center, Osaka University Medical School, Osaka, Japan, Japan Kanji Mori, Kyoko Iwao & Yasuo Miyoshi *

Division of Biochemistry, Chiba Cancer Research Institute, Chiba, Japan, Japan Akira Nakagawara * Department of Oncogene Research, Research Institute for Microbial Diseases, Osaka

University, Osaka, Japan, Japan Kazuyoshi Kofu & Tetsu Akiyama * Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, University of Tokyo,

Tokyo, Japan, Japan Tetsu Akiyama * Department of Neurosurgery, Osaka University Medical School, Osaka, Japan, Japan Norio Arita & Toru Hayakawa Authors * Kanji Mori View author

publications You can also search for this author inPubMed Google Scholar * Kyoko Iwao View author publications You can also search for this author inPubMed Google Scholar * Yasuo Miyoshi

View author publications You can also search for this author inPubMed Google Scholar * Akira Nakagawara View author publications You can also search for this author inPubMed Google Scholar *

Kazuyoshi Kofu View author publications You can also search for this author inPubMed Google Scholar * Tetsu Akiyama View author publications You can also search for this author inPubMed 

Google Scholar * Norio Arita View author publications You can also search for this author inPubMed Google Scholar * Toru Hayakawa View author publications You can also search for this author

inPubMed Google Scholar * Y. Nakamura View author publications You can also search for this author inPubMed Google Scholar ADDITIONAL INFORMATION Received: October 30, 1997 / Accepted:

November 27, 1997 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Mori, K., Iwao, K., Miyoshi, Y. _et al._ Identification of brain-specific splicing

variants of the _hDLG1_ gene and altered splicing in neuroblastoma cell lines. _J Hum Genet_ 43, 123–127 (1998). https://doi.org/10.1007/s100380050052 Download citation * Published: 01 June

1998 * Issue Date: June 1998 * DOI: https://doi.org/10.1007/s100380050052 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link

Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative * Key words Splicing variants *

hDLG1 gene * Neuroblastoma