Human Molecular Genetics, 2001, Vol. 10, No. 6 617-627
© 2001 Oxford University Press
WBSCR14, a gene mapping to the Williams–Beuren syndrome deleted region, is a new member of the Mlx transcription factor network
1Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Via Olgettina 58, Milan, Italy, 2Università Vita e Salute, San Raffaele Biomedical Science Park, Milan, Italy and 3Biotechnology Division, Faculty of Medicine, University of Bologna, Bologna, Italy
Williams–Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. Here, we report the functional characterization of WBS critical region gene 14 (WBSCR14), a gene contained in the WBS commonly deleted region. It encodes a basic-helix–loop–helix leucine zipper (bHLHZip) transcription factor of the Myc/Max/Mad superfamily. WBSCR14 is expressed in multiple tissues, including regions of the brain and the intestinal tract. WBSCR14 forms heterodimers with the bHLHZip protein Mlx to bind the DNA sequence CACGTG. Like Max, Mlx has no intrinsic transcriptional activity, but its association with Mad1, Mad4, Mnt or WBSCR14 can repress E-box-dependent transcription. Preliminary results suggest a possible role of WBSCR14 in growth control. Our data support the view that the Max-like bHLHZip protein, Mlx, is a key element of a transcription factor network. We thus suggest that WBSCR14 may contribute to some aspects of the WBS pathology.
+ These authors contributed equally to this work
§ Present address: Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy
¶ Present address: Division of Medical Genetics, University of Geneva Medical School, CMU, Geneva, Switzerland
To whom correspondence should be addressed at: Division of Medical Genetics, University of Geneva Medical School, CMU, 1 rue Michel Servet, 1211 Geneva 4, Switzerland. Tel: +41 22 702 5719; Fax: +41 22 702 5706; Email: alexandre.reymond@medecine.unige.ch
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