Identification and characterization of the tuberous sclerosis gene on chromosome 16

Nellist, Mark, Janssen, Bart, Brook-Carter, Phillip T., Hesseling-Janssen, Arjenne L. W., Maheshwar, Magitha M., Verhoef, Senno, Van den Ouweland, Ans M. W., Lindhout, Dick, Eussen, Bert, Cordeiro, Isabel, Santos, Heloisa, Halley, Dicky J. J., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Ward, Christopher J., Peral, Belen, Thomas, Sandra, Hughes, Jim, Harris, Peter C., Roelfsema, Jeroen H., Saris, Jasper J., Spruit, Lia, Peters, Dorien J. M., Dauwerse, Johannes G. and Bruening, Martijn H. 1993. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75 (7) , pp. 1305-1315. 10.1016/0092-8674(93)90618-Z

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Abstract

Tuberous sclerosis (TSC) is an autosomal dominant multisystem disorder with loci assigned to chromosomes 9 and 16. Using pulsed-field gel electrophoresis (PFGE), we identified five TSC-associated deletions at 16p 13.3. These were mapped to a 120 kb region that was cloned in cosmids and from which four genes were isolated. One gene, designated TSC2, was interrupted by all five PFGE deletions, and closer examination revealed several intragenic mutations, including one de novo deletion. In this case, Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene. The 5.5 kb TSC2 transcript is widely expressed, and its protein product, tuberin, has a region of homology to the GTPaseactivating protein GAP3.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Publisher:	Elsevier
ISSN:	0092-8674
Last Modified:	24 Oct 2022 10:17
URI:	https://orca.cardiff.ac.uk/id/eprint/43720

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