Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13

Couillin, P.; Azoulay, Martine; Henry, Isabelle; Ravisé, N; Grisard, M. C.; Jeanpierre, Marc; Barichard, F; Metezeau, Philippe; Candelier, Jean-Jacques; Lewis, William H.; Heyningen, Veronica van; Junien, Claudine

doi:10.1007/bf00284053

Cited by 26 publications

(9 citation statements)

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“…Bid7 cells carry the deletion llp12-llpl4.dist. (Couillin et al 1989). Extraction of DNA, preparation of Southem blots, and hybridization conditions have previously been described (Gessler et al 1989a).…”

Section: Celllines and Southem Blot Analysismentioning

confidence: 99%

The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome

et al. 1990

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Section: Celllines and Southem Blot Analysismentioning

confidence: 99%

The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome

et al. 1990

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“…Detailed molecular analysis also has been carried out on a second patient with a visible deletion at chromosome 11pl3, who had WT, genitourinary abnormalities, but no aniridia (6)(7)(8). The smallest region of overlap between these two deletions coincides with the extent of a rare WT-associated homozygous deletion region (9,10) and includes the putative WT locus, for which a candidate gene was recently isolated (11).…”

Section: Introductionmentioning

confidence: 99%

“…The second patient, DAR, has been described in detail (13 Somatic Cell Hybrids. Fusions were carried out between Epstein-Barr virus-transformed lymphoblastoid cells from the patients and mouse myeloma cell lines as described (6,12). Stable cell lines were selected by fluorescence-activated cell sorting and subcloning of live cells with high-level expression of appropriate human chromosome 11-encoded cell surface markers (6,14).…”

mentioning

confidence: 99%

“…Fusions were carried out between Epstein-Barr virus-transformed lymphoblastoid cells from the patients and mouse myeloma cell lines as described (6,12). Stable cell lines were selected by fluorescence-activated cell sorting and subcloning of live cells with high-level expression of appropriate human chromosome 11-encoded cell surface markers (6,14). The newly produced hybrids from the PAZO cell line were designated PAX and were analyzed for heterozygous marker alleles to ensure the presence of each chromosome 11 homolog in independent hybrids.…”

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confidence: 99%

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Role for the Wilms tumor gene in genital development?

Heyningen

Bickmore

Seawright

et al. 1990

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

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Detailed molecular definition of the WAGR region at chromosome llpl3 has been achieved by chromosome breakpoint analysis and long-range restriction mapping. Here we describe the molecular detection of a cytogenetically invisible 1-megabase deletion in an individual with aniridia, cryptorchidism, and hypospadias but no Wilms tumor (WT). The region of overlap between this deletion and one associated with WT and similar genital anomalies but no aniridia covers a region of 350-400 kilobases, which is coincident with the extent of homozygous deletion detected in tumor tissue from a sporadic WT. A candidate WT gene located within this region has recently been isolated, suggesting nonpenetrance for tumor expression in the first individual. The inclusion within the overlap region of a gene for WT predisposition and a gene for the best-documented WT-associated genitourinary malformations leads us to suggest that both ofthese anomalies result from a loss-of-function mutation at the same locus. This in turn implies that the WT gene exerts pleiotropic effect on both kidney and genitourinary development, a possibility supported by the observed expression pattern of the WT candidate gene in developing kidney and gonads.Wilms tumor (WT) is a kidney malignancy-the most frequently seen solid tumor of childhood. Most cases are sporadic and unilateral, with no associated anomalies. Bilateral and familial tumors, comprising approximately 7% and 1% of the incidence, respectively (1), have an earlier age of onset than unilateral cases. On the basis of such statistics, the two-hit hypothesis formulated originally for retinoblastoma was extended to WT (2). This model suggests that two mutational steps are required for the development of these childhood tumors. In the hereditary (bilateral and familial) cases, the first predisposing mutation is postulated to be present already in the germ-line and therefore present constitutively in all cells of the target tissue-hence, the earlier age of onset. In sporadic cases, two mutations have to accumulate postzygotically within the same target cell. Ninety-five percent of all WT cases have presented by the age of 10 years (1), suggesting that the target-cell population disappears as development to mature form is completed.Apart from rare familial incidence, the most clear-cut evidence for the presence of a predisposing DNA-level change has come from the unexpectedly frequent association (1 in 100) of WT with aniridia (absence of iris) (3). After this observation, the diagnosis of sporadic aniridia in newborn infants, especially when accompanied by other anomalies, became a prognostic indicator for the possible development of WT. In many such cases, additional genitourinary abnormalities and mental retardation are also present-hence, the acronym WAGR for this syndrome. Karyotypic analysis of WAGR cases revealed the frequent presence of a deletion on one chromosome 11 homolog, always including part of band 11pl3 (4). Only about 60% of the cases with a visible deletion develop WT, demonstra...

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“…Deux remaniements chromosomiques ont joué un rôle déterminant dans cette chasse au gène WT : le pre mier, une délétion constitutionnelle llp13 chez un sujet (DAR) non ani ridique présentant une tumeur et des anomalies génito-urinaires. Ce rema niement, épargnant le locus de l'ani ridie (AN2), a permis de délimiter une frontière entre ce locus et le locus WT [9]. Le second, une délétion homozygote dans une tumeur spora dique (Wit13) révélée par l'absence du marqueur Sl.…”

unclassified

Un gène candidat pour la tumeur de Wilms

Junien¹

1990

Med Sci (Paris)

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Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13

Cited by 26 publications

References 50 publications

The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome

The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome

Role for the Wilms tumor gene in genital development?

Un gène candidat pour la tumeur de Wilms

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