title: Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma.
abstract: Deletion of a distal portion of 1p is seen in a wide range of human malignancies, including neuroblastoma. Here, a 1p36.3 commonly deleted region of 216 kb has been defined encompassing two genes, CAMTA1 and FLJ10737. Low expression of CAMTA1 has been recently shown to be an independent predictor of poor outcome in neuroblastoma patients. The present study surveys CAMTA1 and FLJ10737 for genetic alterations by fluorescence-based single strand conformation polymorphism (SSCP) using a panel of DNAs from 88 neuroblastomas, their matching blood samples and 97 unaffected individuals. Nucleotide variants encoding amino acid substitutions were found in both genes. One CAMTA1 variant (T1336I) was not detected in 97 unaffected individuals, another (N1177K) resides in a conserved domain of the CAMTA1 protein and was found hemizygous in six neuroblastomas. We found no evidence for somatic mutations in FLJ10737 or CAMTA1. Further investigations are needed to address the functional impact of the identified variants and their possible significance for neuroblastoma.
authors.affiliation: Division of Tumour Genetics B030, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany. k.henrich@dkfz.de
authors.forename: Kai-Oliver
authors.initials: KO
authors.lastname: Henrich
authors.forename: Andreas
authors.initials: A
authors.lastname: Claas
authors.forename: Christian
authors.initials: C
authors.lastname: Praml
authors.forename: Axel
authors.initials: A
authors.lastname: Benner
authors.forename: Jan
authors.initials: J
authors.lastname: Mollenhauer
authors.forename: Annemarie
authors.initials: A
authors.lastname: Poustka
authors.forename: Manfred
authors.initials: M
authors.lastname: Schwab
authors.forename: Frank
authors.initials: F
authors.lastname: Westermann
mesh_terms: D000483:Alleles; D002135:Calcium-Binding Proteins / Q000235:genetics*; D045744:Cell Line, Tumor; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D006801:Humans; D009447:Neuroblastoma / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017421:Sequence Analysis; D015534:Trans-Activators / Q000235:genetics*
chemical_list: C487554:CAMTA1 protein, human; D002135:Calcium-Binding Proteins; C487553:DNAJC11 protein, human; D011506:Proteins; D015534:Trans-Activators