a constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human nbpf1 and accn1 genes宪法易位t(1;17)(p36.2;q11.2)在神经母细胞瘤患者扰乱人类nbpf1和accn1基因.pdfVIP

A Constitutional Translocation t(1;17)(p36.2;q11.2) in a Neuroblastoma Patient Disrupts the Human NBPF1 and ACCN1 Genes 1,2. 1,2. 3. 1 3 Karl Vandepoele , Vanessa Andries , Nadine Van Roy , Katrien Staes , Jo Vandesompele , ` 4 3 1,2 3 1,2 Genevieve Laureys , Els De Smet , Geert Berx , Frank Speleman , Frans van Roy * 1 Department for Molecular Biomedical Research, VIB, Ghent, Belgium, 2 Department of Molecular Biology, Ghent University, Ghent, Belgium, 3 Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, 4 Department of Pediatric Hematology and Oncology, Ghent University Hospital, Ghent, Belgium Abstract The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17)(p36.2;q11.2) may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene.