TY - JOUR
T1 - Identification of additional transcripts in the Williams-Beuren syndrome critical region
AU - Merla, Giuseppe
AU - Ucla, Catherine
AU - Guipponi, Michel
AU - Reymond, Alexandre
PY - 2002/5
Y1 - 2002/5
N2 - Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple gens at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetyl-galactosaminyltransferase, a DNAJ-like chaperone, NOL1/ NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features.
AB - Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple gens at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetyl-galactosaminyltransferase, a DNAJ-like chaperone, NOL1/ NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features.
UR - http://www.scopus.com/inward/record.url?scp=0036590136&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036590136&partnerID=8YFLogxK
U2 - 10.1007/s00439-002-0710-x
DO - 10.1007/s00439-002-0710-x
M3 - Article
C2 - 12073013
AN - SCOPUS:0036590136
VL - 110
SP - 429
EP - 438
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 5
ER -