1986
DOI: 10.1038/321882a0
|View full text |Cite
|
Sign up to set email alerts
|

The β-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus

Abstract: One in 10,000 children develops Wilms' tumour, an embryonal malignancy of the kidney. Although most Wilms' tumours are sporadic, a genetic predisposition is associated with aniridia, genito-urinary malformations and mental retardation (the WAGR syndrome). Patients with this syndrome typically exhibit constitutional deletions involving band p13 of one chromosome 11 homologue. It is likely that these deletions overlap a cluster of separate but closely linked genes that control the development of the kidney, iris… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

0
24
0

Year Published

1987
1987
2009
2009

Publication Types

Select...
9
1

Relationship

0
10

Authors

Journals

citations
Cited by 111 publications
(24 citation statements)
references
References 49 publications
0
24
0
Order By: Relevance
“…Our findings that Spi-1 mRNA decreased significantly before the cells became committed to differentiate (Fig. 3) [41,44]), GH-1 through GH-4 (Goss-Harris hybrids containing fragments of human chromosome 11 derived from cell line Jl-ll [32]), and MJ (a somatic cell hybrid from WAGR patient MJ containing only the chromosome 11 homolog carrying an interstitial deletion limited to lip13 [31] shown that the Spi-I transcription rate is unchanged as MEL cells differentiate and that the decrease in Spi-1 mRNA is due to an increased rate of degradation. This effect could provide a means by which the agents inducing MEL cell differentiation could bypass the transcriptional activation of Spi-1 by retroviral insertion.…”
Section: )mentioning
confidence: 89%
“…Our findings that Spi-1 mRNA decreased significantly before the cells became committed to differentiate (Fig. 3) [41,44]), GH-1 through GH-4 (Goss-Harris hybrids containing fragments of human chromosome 11 derived from cell line Jl-ll [32]), and MJ (a somatic cell hybrid from WAGR patient MJ containing only the chromosome 11 homolog carrying an interstitial deletion limited to lip13 [31] shown that the Spi-I transcription rate is unchanged as MEL cells differentiate and that the decrease in Spi-1 mRNA is due to an increased rate of degradation. This effect could provide a means by which the agents inducing MEL cell differentiation could bypass the transcriptional activation of Spi-1 by retroviral insertion.…”
Section: )mentioning
confidence: 89%
“…For example, deletions of the 11p11p12 and 11p13 regions on the short arm of human chromosome (Chr) 11 have been identified in the Potocki-Shaffer syndrome (Shaffer et al 1993;Bartsch et al 1996;Potocki and Shaffer 1996) and the Wilm's tumor-aniridia-genitourinary abnormalities-mental retardation (WAGR) syndrome (Riccardi et al 1978;Francke et al 1979;Hittner et al 1979;Fryns et al 1981), respectively. Deletion analyses were important in identifying genes associated with clinical features of the syndromes: EXT2 for multiple exostoses and ALX4 for parietal foramina in Potocki-Shaffer syndrome (Ligon et al 1998;Wu et al 2000;Wakui et al 2005), WT1 for Wilm's tumor, and PAX6 for aniridia in WAGR syndrome (van Heyningen et al 1985;Glaser et al 1986Glaser et al , 1992Fantes et al 1992). Deletion analyses have also defined the extent of the deleted region in patients with combined PotockiShaffer and WAGR syndromes (McGaughran et al 1995;Brémond-Gignac et al 2005) as well as microdeletions 39 to PAX6, which prevent expression of PAX6 and cause aniridia (Lauderdale et al 2000;D'elia et al 2007;Davis et al 2008).…”
mentioning
confidence: 99%
“…When somatic cell hybrids established from WAGR patients with deletions or translocations were assayed with the two closest known flanking genes, erythrocyte catalase (CAT) on the proximal side and the /3 subunit offollicle-stimulating hormone (FSHB) on the distal, the location of the genes responsible for the WAGR complex could be restricted to the region between the two genes, in the distal one-third of llpl3 (9)(10)(11).…”
mentioning
confidence: 99%