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PMID: 8099255 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

American journal of human genetics ·Vol. 52 ·No. 6 ·1993-06-00 ·Pages 1122-8

Dryja TP, Rapaport J, McGee TL, Nork TM, Schwartz TL

Abstract

In one family with low-penetrance retinoblastoma, a germ-line deletion is shared by affected and unaffected, obligate carriers. The deletion encompasses exon 4 of the retinoblastoma gene and corresponds to a mutant protein without residues 127-166. In a second family, RFLP analysis shows that two distant relatives have independently derived mutations. These families, together with others reported elsewhere, indicate that attributes of alleles at the retinoblastoma locus specify penetrance.

MeSH Terms
Base Sequence DNA, Single-Stranded Female Gene Deletion Humans Male Molecular Sequence Data Mutation Pedigree Polymorphism, Restriction Fragment Length Retinoblastoma/genetics
Chemicals
DNA, Single-Stranded
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Dryja T P
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.
Rapaport J
McGee T L
Nork T M
Schwartz T L
References (34)
34 references, click to expand
  1. Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene.
    Hum Genet. 1992 Jul;89(5):508-12 PMID: 1634228
  2. Mutation and cancer: statistical study of retinoblastoma.
    Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3 PMID: 5279523
  3. Eight closely linked loci place the Wilson disease locus within 13q14-q21.
    Am J Hum Genet. 1988 Nov;43(5):664-74 PMID: 3189332
  4. A cDNA encoding a pRB-binding protein with properties of the transcription factor E2F.
    Cell. 1992 Jul 24;70(2):337-50 PMID: 1638634
  5. A study of retinoblastoma in Ohio.
    Am J Hum Genet. 1960 Mar;12:1-43 PMID: 14419544
  6. Hereditary retinoblastoma: delayed mutation or host resistance?
    Am J Hum Genet. 1978 Jul;30(4):406-24 PMID: 717402
  7. Mutations in the RB1 gene and their effects on transcription.
    Mol Cell Biol. 1989 Nov;9(11):4596-604 PMID: 2601691
  8. The transcription factor E2F interacts with the retinoblastoma product and a p107-cyclin A complex in a cell cycle-regulated manner.
    Cell. 1992 Jan 10;68(1):157-66 PMID: 1531040
  9. Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation.
    Science. 1981 Sep 25;213(4515):1501-3 PMID: 7280668
  10. Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.
    Science. 1980 May 30;208(4447):1042-4 PMID: 7375916
  11. Molecular mechanism of retinoblastoma gene inactivation in retinoblastoma cell line Y79.
    Proc Natl Acad Sci U S A. 1988 Aug;85(16):6017-21 PMID: 3413073
  12. Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.
    Nature. 1991 Sep 5;353(6339):83-6 PMID: 1881452
  13. Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity.
    Hum Genet. 1983;65(2):122-4 PMID: 6654325
  14. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.
    Nature. 1983 Oct 27-Nov 2;305(5937):779-84 PMID: 6633649
  15. Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma.
    Nature. 1983 Aug 4-10;304(5925):451-3 PMID: 6877367
  16. The incidence of retinoblastoma.
    Am J Ophthalmol. 1975 Aug;80(2):263-5 PMID: 1155565
  17. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma.
    Nature. 1986 Oct 16-22;323(6089):643-6 PMID: 2877398
  18. Expression cloning of a cDNA encoding a retinoblastoma-binding protein with E2F-like properties.
    Cell. 1992 Jul 24;70(2):351-64 PMID: 1638635
  19. Homozygosity of chromosome 13 in retinoblastoma.
    N Engl J Med. 1984 Mar 1;310(9):550-3 PMID: 6694706
  20. Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
    N Engl J Med. 1989 Dec 21;321(25):1689-95 PMID: 2594029
  21. Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.
    Am J Hum Genet. 1989 Oct;45(4):547-55 PMID: 2577468
  22. Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes.
    Genet Epidemiol. 1988;5(6):375-80 PMID: 2905314
  23. Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma.
    Hum Genet. 1989 Sep;83(2):155-8 PMID: 2550354
  24. Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene.
    N Engl J Med. 1988 Jan 21;318(3):151-7 PMID: 2892131
  25. Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants.
    Proc Natl Acad Sci U S A. 1988 Apr;85(7):2210-4 PMID: 2895471
  26. Genetic counselling in retinoblastoma: importance of ocular fundus examination of first degree relatives and linkage analysis.
    Br J Ophthalmol. 1991 Mar;75(3):147-50 PMID: 2012779
  27. Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing.
    Oncogene. 1992 Jul;7(7):1445-51 PMID: 1352398
  28. Independent binding of the retinoblastoma protein and p107 to the transcription factor E2F.
    Nature. 1992 Jan 9;355(6356):176-9 PMID: 1530885
  29. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.
    Genomics. 1991 Jul;10(3):733-9 PMID: 1679750
  30. Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
    Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):6177-81 PMID: 1352883
  31. Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.
    Am J Hum Genet. 1991 May;48(5):880-8 PMID: 1673287
  32. Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom.
    Arch Dis Child. 1990 Jul;65(7 Spec No):651-6 PMID: 1974756
  33. Structure and partial genomic sequence of the human retinoblastoma susceptibility gene.
    Gene. 1989 Aug 1;80(1):119-28 PMID: 2701949
  34. Retinoblastoma protein switches the E2F site from positive to negative element.
    Nature. 1992 Jul 16;358(6383):259-61 PMID: 1321348
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1993-06-00
Pages
1122-8
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1682279
Subset
IM
Grants
NEI NIH HHS · EY05321 · United States
NEI NIH HHS · EY08724 · United States
External Links
PubMed source PMC Full Text View journal details
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