Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus

Lalande, Marc; Dryja, Thaddeus P.; Schreck, Rhona; Shipley, Janet; Flint, Alan; Latt, Samuel A.

doi:10.1016/0165-4608(84)90073-6

Cited by 98 publications

(29 citation statements)

References 23 publications

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“…The initial report of a total structural loss within a DNA sequence located near the Rb locus used a DNA probe, H3-8, (27) which had been obtained from a chromosome 13 library and mapped to the same region as the Rb gene, namely 1 3q 14. Two retinoblastomas were identified that were missing genetic sequences corresponding to the H3-8 probe (28).…”

Section: Rb Gene Abnormalities In Retinoblastoma and Second Malignanciesmentioning

confidence: 99%

Role of the retinoblastoma gene in the initiation and progression of human cancer.

Benedict

et al. 1990

J. Clin. Invest.

130

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Section: Rb Gene Abnormalities In Retinoblastoma and Second Malignanciesmentioning

confidence: 99%

Role of the retinoblastoma gene in the initiation and progression of human cancer.

Benedict

et al. 1990

J. Clin. Invest.

130

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“…To our satisfaction, we found two retinoblastomas with homozygous deletions within 13q14 including at least 25 kilobases (kb) surrounding the locus defined by hybridization probe pH3-8 (H3-8 locus; see ref. 17). A third tumor was documented to have a deletion of one chromosome 13 homolog, with one end of the deletion occurring within a 1.55-kb fragment approximately 13 kb from the H3-8 fragment.…”

mentioning

confidence: 99%

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.

Dryja¹,

Rapaport²,

Joyce³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

198

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DNA fragments from a locus spanning 29 kilobases within chromosome band 13q14 detected deletions in 3 retinoblastomas out of 37 such tumors examined. Somatically occurring, homozygous deletions spanning at least 25 kilobases were detected in retinoblastomas from two unrelated patients. These deletions are bounded by the esterase D locus proximally. In a third patient, both tumor cells and leukocytes have a deletion of one chromosome 13 homolog, with one end of the deletion localized to a 1.55-kilobase fragment within the cloned region. It is likely that the cloned locus is within a few hundred kilobases of the retinoblastoma gene (i.e., the locus governing predisposition to such tumors) and that the deletions detected also involve the retinoblastoma gene. Further, it may be possible to base a successful approach to the isolation of the retinoblastoma gene on this assumed physical proximity of the two loci.It has been about 80 years since the appearance of published reports of families in which a parent who was cured of retinoblastoma had children afflicted with the same type of tumor (ref. 1, p. 336; ref. 2). There is evidence from more recent studies that the heritability of predisposition to retinoblastoma is governed by a locus within human chromosome band 13q14 (3-8). Furthermore, the locus is representative of a class of such loci in the human genome, called recessive oncogenes (9, 10). The loci are related, since it appears that recessive, mutant alleles at any of the loci tend to be oncogenic and, correspondingly, that the dominant alleles normally present at the loci have a role in preventing tumor formation (11)(12)(13)(14)(15)(16). The evidence supporting this genetic nature of alleles at the retinoblastoma locus has been indirect; i.e., the locus has not been isolated for direct molecular study.A proportion of the recessive mutations at the locus that predispose to tumor formation are deletions (3,4 MATERIALS AND METHODSOrigin of Probes. There are three loci established to be within 13q14: the esterase D locus and the loci detected by probes pH3-8 and pH2-42 (4, 17). Probes pH3-8 and pH2-42 were derived from a phage library enriched for DNA sequences from chromosome 13 by using a fluorescenceactivated chromosome sorter (17). Esterase D is an enzyme, of unknown biologic function, that demonstrates allelic isozymes (18). One other locus, named 7D2, is closely linked to the esterase D locus and is probably within or near 13q14 (19).Other probes that detect loci assigned to chromosome 13 and were used in this study are p7F12, p9D11, plE8, p9A7, pHU10, pHU26, and pHUB8 (20,21). The sublocalization of the loci detected by these probes has been determined by deletion mapping (20,21) and by in situ hybridization (22). Probe p4-A detects an arbitrary autosomal locus not on chromosome 13.Construction of Phage Library. For the purpose of "chromosome walking," a total human phage library was constructed. Normal human lymphoblast DNA was digested partially with Mbo I, with due regard to the calculations ...

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“…The single copy cloned DNA fragments p7D2 (19), pG24E2.4 and pG14E1.9 (21), and H2-26 (20) have been given locus designations D13S10, D13S21, D13S22, and D13S28, respectively, by the Human Gene Mapping Committee (28). Except for D13S28, which maps to 13ql2-q13 (23), these loci have been mapped to 13q14 (19,24 (29).…”

Section: Methodsmentioning

confidence: 99%

“…PFGE has been used previously to establish a long-range restriction map surrounding the RBI locus and to localize the breakpoints of three retinoblastoma-associated translocations within the RBI gene (18). This map is being extended in both directions by making use of cloned DNA probes derived from several chromosome 13-specific libraries (19)(20)(21) and a panel of cell lines carrying overlapping deletions of chromosome 13.…”

mentioning

confidence: 99%

Construction of the physical map for three loci in chromosome band 13q14: comparison to the genetic map.

Higgins

Turmel²,

Noolandi³

et al. 1990

Proc. Natl. Acad. Sci. U.S.A.

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Pulsed-field gel electrophoresis (PFGE) and deletion mapping are being used to construct a physical map of the long arm of human chromosome 13. The present study reports a 2700-kilobase (kb) Not I long-range restriction map encompassing the 13q14-specific loci D13S10, D13S21, and D13S22, which are detected by the cloned DNA markers p7D2, pG24E2.4, and pG14E1.9, respectively. Analysis of a panel of seven cell lines that showed differential methylation at a Not I site between D13S10 and D13S21 proved physical linkage ofthe two loci to the same 875-kb Not I fragment. D13S22 mapped to a different Not I fragment, precluding the possibility that D13S22 is located between D13S10 and D13S21. PFGE analysis of Not I partial digests placed the 1850-kb Not I fragment containing D13S22 immediately adjacent to the 875-kb fragment containing the other two loci. The proximal rearrangement breakpoint in a cell line carrying a dell3(q14.1q21.2) was detected by D13S21 but not by D13S10, demonstrating that D13S21 lies proximal to D13S10. Quantitative analysis of hybridization signals of the three DNA probes to DNA from the same cell line indicated that only D13S10 was deleted, establishing the order of these loci to be cen-D13S22-D13S21-D1310-tel. Surprisingly, this order was estimated to be 35,000 times less likely than that favored by genetic linkage analysis.

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Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus

Cited by 98 publications

References 23 publications

Role of the retinoblastoma gene in the initiation and progression of human cancer.

Role of the retinoblastoma gene in the initiation and progression of human cancer.

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.

Construction of the physical map for three loci in chromosome band 13q14: comparison to the genetic map.

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