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Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma.
Oncogene. 2005 Apr 14; 24(16):2684-94.O

Abstract

Substantial genomic and functional evidence from primary tumors and cell lines indicates that a consistent region of distal chromosome 1p is deleted in a sizable proportion of human neuroblastomas, suggesting that this region contains one or more tumor suppressor genes. To determine systematically and precisely the location and extent of 1p deletion in neuroblastomas, we performed allelic loss studies of 737 primary neuroblastomas and genotype analysis of 46 neuroblastoma cell lines. Together, the results defined a single region within 1p36.3 that was consistently deleted in 25% of tumors and 87% of cell lines. Two neuroblastoma patients had constitutional deletions of distal 1p36 that overlapped the tumor-defined region. The tumor- and constitutionally-derived deletions together defined a smallest region of consistent deletion (SRD) between D1S2795 and D1S253. The 1p36.3 SRD was deleted in all but one of the 184 tumors with 1p deletion. Physical mapping and DNA sequencing determined that the SRD minimally spans an estimated 729 kb. Genomic content and sequence analysis of the SRD identified 15 characterized, nine uncharacterized, and six predicted genes in the region. The RNA expression profiles of 21 of the genes were investigated in a variety of normal tissues. The SHREW1 and KCNAB2 genes both had tissue-restricted expression patterns, including expression in the nervous system. In addition, a novel gene (CHD5) with strong homology to proteins involved in chromatin remodeling was expressed mainly in neural tissues. Together, these results suggest that one or more genes involved in neuroblastoma tumorigenesis or tumor progression are likely contained within this region.

Authors+Show Affiliations

Division of Oncology, The Children's Hospital of Philadelphia, 3516 Civic Center Blvd, Philadelphia, PA 19104, USA. white@genome.chop.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15829979

Citation

White, Peter S., et al. "Definition and Characterization of a Region of 1p36.3 Consistently Deleted in Neuroblastoma." Oncogene, vol. 24, no. 16, 2005, pp. 2684-94.
White PS, Thompson PM, Gotoh T, et al. Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma. Oncogene. 2005;24(16):2684-94.
White, P. S., Thompson, P. M., Gotoh, T., Okawa, E. R., Igarashi, J., Kok, M., Winter, C., Gregory, S. G., Hogarty, M. D., Maris, J. M., & Brodeur, G. M. (2005). Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma. Oncogene, 24(16), 2684-94.
White PS, et al. Definition and Characterization of a Region of 1p36.3 Consistently Deleted in Neuroblastoma. Oncogene. 2005 Apr 14;24(16):2684-94. PubMed PMID: 15829979.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma. AU - White,Peter S, AU - Thompson,Patricia M, AU - Gotoh,Takahiro, AU - Okawa,Erin R, AU - Igarashi,Jun, AU - Kok,Marleen, AU - Winter,Cynthia, AU - Gregory,Simon G, AU - Hogarty,Michael D, AU - Maris,John M, AU - Brodeur,Garrett M, PY - 2005/4/15/pubmed PY - 2005/8/10/medline PY - 2005/4/15/entrez SP - 2684 EP - 94 JF - Oncogene JO - Oncogene VL - 24 IS - 16 N2 - Substantial genomic and functional evidence from primary tumors and cell lines indicates that a consistent region of distal chromosome 1p is deleted in a sizable proportion of human neuroblastomas, suggesting that this region contains one or more tumor suppressor genes. To determine systematically and precisely the location and extent of 1p deletion in neuroblastomas, we performed allelic loss studies of 737 primary neuroblastomas and genotype analysis of 46 neuroblastoma cell lines. Together, the results defined a single region within 1p36.3 that was consistently deleted in 25% of tumors and 87% of cell lines. Two neuroblastoma patients had constitutional deletions of distal 1p36 that overlapped the tumor-defined region. The tumor- and constitutionally-derived deletions together defined a smallest region of consistent deletion (SRD) between D1S2795 and D1S253. The 1p36.3 SRD was deleted in all but one of the 184 tumors with 1p deletion. Physical mapping and DNA sequencing determined that the SRD minimally spans an estimated 729 kb. Genomic content and sequence analysis of the SRD identified 15 characterized, nine uncharacterized, and six predicted genes in the region. The RNA expression profiles of 21 of the genes were investigated in a variety of normal tissues. The SHREW1 and KCNAB2 genes both had tissue-restricted expression patterns, including expression in the nervous system. In addition, a novel gene (CHD5) with strong homology to proteins involved in chromatin remodeling was expressed mainly in neural tissues. Together, these results suggest that one or more genes involved in neuroblastoma tumorigenesis or tumor progression are likely contained within this region. SN - 0950-9232 UR - https://www.unboundmedicine.com/medline/citation/15829979/Definition_and_characterization_of_a_region_of_1p36_3_consistently_deleted_in_neuroblastoma_ L2 - https://doi.org/10.1038/sj.onc.1208306 DB - PRIME DP - Unbound Medicine ER -