ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Cyclin D1 (PRAD1: parathyroid adenomatosis 1)LO000284OCCND11111q13
Synonyms: D11S287E ; BCL1 ; B-cell CLL/lymphoma 1 ; PRAD1 ; U21B31 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence   GenBank sequence   GenBank sequence    SNPCard   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: CCND1 encodes cyclin D1, a 36 kDa protein, which is a critical target of proliferative signals in cell cycle at the G1/S transition phase (Baldin et al., 1993) [PubMed ID: 8491378]. Overexpression and rearrangement of the CCND1 locus resulting in deregulated expression of protein has been observed in several malignancies, including breast cancer (Gillett et al., 1994) [PubMed ID: 8137296], ovarian cancer (Dhar et al., 1999) [PubMed ID: 10584879], and lymphoma (Callanan et al., 1996) [PubMed ID: 9258602]. The (11;14)(q13;q32) translocation juxtaposes the CCND1 locus on chromosome 11 to an immunoglobulin-enhancer sequence on chromosome 14 (Rosenberg et al., 1991) [PubMed ID: 1682919]. Inaba et al. (1992) [PubMed ID: 1386335] assigned the CCND1 gene to chromosome 11q13 by combination of somatic cell hybrid studies and fluorescence in situ hybridization. The CCND1 locus consists of five exons (SNPCard). Two known polymorphisms of the CCND1 gene are a frequent A/G substitution in the splice donor region (Betticher et al., 1995) [PubMed ID: 7675441] and an NciI site (Hosokawa and Arnold, 1998) [PubMed ID: 9591636] in exon 4.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
rs9344rs9344   6946291051
rs649392rs649392   6946479351
HaeIIIrs678653   6946673713
rs7178rs7178   6946903051

References:
- Baldin V, Lukas J, Marcote MJ, Pagano M, Draetta G. "Cyclin D1 is a nuclear protein required for cell cycle progression in G1". Genes Dev. 7:812-21. (1993) Online citation.

- Betticher DC, Thatcher N, Altermatt HJ, Hoban P, Ryder WD, Heighway J. "Alternate splicing produces a novel cyclin D1 transcript". Oncogene 11:1005-11. (1995) Online citation.

- Callanan M, Leroux D, Magaud JP, Rimokh R. "Implication of cyclin D1 in malignant lymphoma". Crit. Rev. Oncog. 7:191-203. (1996) Online citation.

- Dhar KK, Branigan K, Parkes J, Howells RE, Hand P, Musgrove C, Strange RC, Fryer AA, Redman CW, Hoban PR. "Expression and subcellular localization of cyclin D1 protein in epithelial ovarian tumour cells". Br. J. Cancer 81:1174-81. (1999) Online citation.

- Gillett C, Fantl V, Smith R, Fisher C, Bartek J, Dickson C, Barnes D, Peters G. "Amplification and overexpression of cyclin D1 in breast cancer detected by immunohistochemical staining". Cancer Res. 54:1812-7. (1994) Online citation.

- Inaba T, Matsushime H, Valentine M, Roussel MF, Sherr CJ, Look AT. "Genomic organization, chromosomal localization, and independent expression of human cyclin D genes". Genomics 13:565-74. (1992) Online citation.

- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.

- Rosenberg CL, Wong E, Petty EM, Bale AE, Tsujimoto Y, Harris NL, Arnold A. "PRAD1, a candidate BCL1 oncogene: mapping and expression in centrocytic lymphoma". Proc. Natl. Acad. Sci. U. S. A. 88:9638-42. (1991) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan