Exclusion of the phosphoinositide-specific phospholipase Cβ3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1 |
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Authors: | Günther Weber Sean Grimmond Jacob Lagercrantz Eitan Friedman Catherine Phelan Emma Carson Nicholas Hayward Orit Jacobovitz Magnus Nordenskjöld Catharina Larsson |
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Institution: | (1) Department of Molecular Medicine, L6 building, Karolinska Hospital, S-171 76 Stockholm, Sweden Tel.: +46-8-7293923; Fax: +46-8-327734, SE;(2) Queensland Cancer Fund Research Unit, Joint Experimental Oncology Program, Queensland Institute of Medical Research, Herston, QLD, 4029, Australia, AU;(3) The Oncogenetics Unit, Institute of Genetics, Chaim Sheba Medical Center, Tel-Hashomer, 52621, Israel, IL |
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Abstract: | The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our
previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase Cβ3 gene from the actual region.
PLCB3 plays an important role in signal transduction and, moreover, shows loss of expression in some endocrine tumors, in accordance
with a putative tumor suppressor gene function, and thus appears to be an excellent candidate for MEN1. We have therefore
undertaken screening for constitutional mutations in individuals from MEN1 families. Several sequence alterations have been
discovered, none of them however fulfilling the criteria for a disease-related mutation. We can now exclude PLCB3 from candidacy as the MEN1 gene.
Received: 24 July 1996 / Revised: 16 August 1996 |
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