The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.
Open accessAbstract
Parental origin-specific alterations of chromosome 11p15 in human cancer suggest the involvement of one or more maternally expressed imprinted genes involved in embryonal tumor suppression and the cancer-predisposing Beckwith-Wiedemann syndrome (BWS). The gene encoding cyclin-dependent kinase inhibitor p57KIP2, whose overexpression causes G1 phase arrest, was recently cloned and mapped to this band. We find that the p57KIP2 gene is imprinted, with preferential expression of the maternal allele. However, the imprint is not absolute, as the paternal allele is also expressed at low levels in most tissues, and at levels comparable to the maternal allele in fetal brain and some embryonal tumors. The biochemical function, chromosomal location, and imprinting of the p57KIP2 gene match the properties predicted for a tumor suppressor gene at 11p15.5. However, as the p57KIP2 gene is 500 kb centromeric to the gene encoding insulin-like growth factor 2, it is likely to be part of a large domain containing other imprinted genes. Thus, loss of heterozygosity or loss of imprinting might simultaneously affect several genes at this locus that together contribute to tumor and/or growth- suppressing functions that are disrupted in BWS and embryonal tumors.
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Germline p16 mutations in familial melanoma
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Self-citationDisruption of imprinting caused by deletion of the H19 gene region in mice
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Cited by
CDK inhibitors: Cell cycle regulators and beyond
Besson, A., Dowdy, S. F., & Roberts, J. M. (2008) · Developmental Cell · doi:10.1016/j.devcel.2008.01.013 · Cited by 1,152
Bartolomei, M. S., & Tilghman, S. M. (1997) · Annual Review of Genetics · doi:10.1146/annurev.genet.31.1.493 · Cited by 631
Wilms' tumour: connecting tumorigenesis and organ development in the kidney
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Genomic Imprinting: Implications for Human Disease
Falls, J. G., Pulford, D. J., Wylie, A. A., & Jirtle, R. L. (1999) · The American Journal of Pathology · doi:10.1016/s0002-9440(10)65309-6 · Cited by 359
Genomic Imprinting and Kinship: How Good is the Evidence?
Haig, D. (2004) · Annual Review of Genetics · doi:10.1146/annurev.genet.37.110801.142741 · Cited by 355
Metadata
- Authors
- Matsuoka, S., Thompson, J. S., Edwards, M. C., Bartletta, J. M., Grundy, P., Kalikin, L. M., Harper, J. W., Elledge, S. J., & Feinberg, A. P.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1996-04-02
- Volume
- 93
- Issue
- 7
- Pages
- 3026-3030
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2018574431
- Cited by
- 301
- References
- 23
- FWCI
- 15.64
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15. https://app.cochat.ai/papers/10.1073/pnas.93.7.3026
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- Matsuoka, S., Thompson, J. S., Edwards, M. C., Bartletta, J. M., Grundy, P., Kalikin, L. M., Harper, J. W., Elledge, S. J., & Feinberg, A. P. (1996). Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.93.7.3026
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