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. 1996 Jun;58(6):1370–1373.

The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

R Peoples, L Perez-Jurado, Y K Wang, P Kaplan, U Francke
PMCID: PMC1915059  PMID: 8651315

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chen M., Pan Z. Q., Hurwitz J. Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells. Proc Natl Acad Sci U S A. 1992 Apr 1;89(7):2516–2520. doi: 10.1073/pnas.89.7.2516. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Colley A., Thakker Y., Ward H., Donnai D. Unbalanced 13;18 translocation and Williams syndrome. J Med Genet. 1992 Jan;29(1):63–65. doi: 10.1136/jmg.29.1.63. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cullmann G., Fien K., Kobayashi R., Stillman B. Characterization of the five replication factor C genes of Saccharomyces cerevisiae. Mol Cell Biol. 1995 Sep;15(9):4661–4671. doi: 10.1128/mcb.15.9.4661. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Curran M. E., Atkinson D. L., Ewart A. K., Morris C. A., Leppert M. F., Keating M. T. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 1993 Apr 9;73(1):159–168. doi: 10.1016/0092-8674(93)90168-p. [DOI] [PubMed] [Google Scholar]
  5. Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., Stock A. D., Leppert M., Keating M. T. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993 Sep;5(1):11–16. doi: 10.1038/ng0993-11. [DOI] [PubMed] [Google Scholar]
  6. Foster K., Ferrell R., King-Underwood L., Povey S., Attwood J., Rennick R., Humphries S. E., Henney A. M. Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann Hum Genet. 1993 May;57(Pt 2):87–96. doi: 10.1111/j.1469-1809.1993.tb00890.x. [DOI] [PubMed] [Google Scholar]
  7. Luckow B., Bunz F., Stillman B., Lichter P., Schütz G. Cloning, expression, and chromosomal localization of the 140-kilodalton subunit of replication factor C from mice and humans. Mol Cell Biol. 1994 Mar;14(3):1626–1634. doi: 10.1128/mcb.14.3.1626. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Morris C. A., Demsey S. A., Leonard C. O., Dilts C., Blackburn B. L. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988 Aug;113(2):318–326. doi: 10.1016/s0022-3476(88)80272-5. [DOI] [PubMed] [Google Scholar]
  9. Nickerson E., Greenberg F., Keating M. T., McCaskill C., Shaffer L. G. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet. 1995 May;56(5):1156–1161. [PMC free article] [PubMed] [Google Scholar]
  10. Okumura K., Nogami M., Taguchi H., Dean F. B., Chen M., Pan Z. Q., Hurwitz J., Shiratori A., Murakami Y., Ozawa K. Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23. Genomics. 1995 Jan 1;25(1):274–278. doi: 10.1016/0888-7543(95)80135-9. [DOI] [PubMed] [Google Scholar]
  11. Pan Z. Q., Chen M., Hurwitz J. The subunits of activator 1 (replication factor C) carry out multiple functions essential for proliferating-cell nuclear antigen-dependent DNA synthesis. Proc Natl Acad Sci U S A. 1993 Jan 1;90(1):6–10. doi: 10.1073/pnas.90.1.6. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Petrij F., Giles R. H., Dauwerse H. G., Saris J. J., Hennekam R. C., Masuno M., Tommerup N., van Ommen G. J., Goodman R. H., Peters D. J. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995 Jul 27;376(6538):348–351. doi: 10.1038/376348a0. [DOI] [PubMed] [Google Scholar]
  13. Pérez Jurado L. A., Li X., Francke U. The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. Cytogenet Cell Genet. 1995;70(3-4):246–249. doi: 10.1159/000134044. [DOI] [PubMed] [Google Scholar]
  14. Tromp G., Christiano A., Goldstein N., Indik Z., Boyd C., Rosenbloom J., Deak S., Prockop D., Kuivaniemi H. A to G polymorphism in ELN gene. Nucleic Acids Res. 1991 Aug 11;19(15):4314–4314. doi: 10.1093/nar/19.15.4314-a. [DOI] [PMC free article] [PubMed] [Google Scholar]

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