TY - JOUR
T1 - Identification and characterization of the tuberous sclerosis gene on chromosome 16
AU - The European Chromosome 16 Tuberous Sclerosis Consortium
AU - Nellist, Mark
AU - Janssen, Batt
AU - Brook-Carter, Phillip T.
AU - Hesseling-Janssen, Arjenne L.W.
AU - Maheshwar, Magitha M.
AU - Verhoef, Senno
AU - Van Den Ouweland, Ans M.W.
AU - Lindhout, Dick
AU - Eussen, Bert
AU - Cordeiro, Isabel
AU - Santos, Heloïsa
AU - Halley, Dicky J.J.
AU - Sampson, Julian R.
AU - Ward, Christopher J.
AU - Peral, Belén
AU - Thomas, Sandra
AU - Hughes, Jim
AU - Harris, Peter C.
AU - Roelfsema, Jeroen H.
AU - Saris, Jasper J.
AU - Spruit, Lia
AU - Peters, Dorien J.M.
AU - Dauwerse, Johannes G.
AU - Breuning, Martijn H.
N1 - Publisher Copyright:
© 1993.
PY - 1993/12/31
Y1 - 1993/12/31
N2 - 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.
AB - 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.
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U2 - 10.1016/0092-8674(93)90618-Z
DO - 10.1016/0092-8674(93)90618-Z
M3 - Article
C2 - 8269512
AN - SCOPUS:0027770784
SN - 0092-8674
VL - 75
SP - 1305
EP - 1315
JO - Cell
JF - Cell
IS - 7
ER -