title: CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia.
abstract: We have isolated a DNA segment absent from all the constitutionally deleted chromosomes 11 of our patients with Wilms tumor. This marker separates two balanced translocations that break in band 11p13: the distal one associated with aniridia (AN2), and the proximal one with genitourinary dysplasia (GUD). The GUD breakpoint maps within the smallest region of overlap (SRO) for the Wilms tumor (WT) gene locus, thus strengthening the previous suggestion of an association between Wilms tumor and other abnormalities of the genitourinary system. The 11p13 translocation breakpoint associated with T-cell acute lymphatic leukemia (T-ALL) is centromeric to the SRO and separated from the WT locus by at least one known gene. This region of the human genome (11p13) is rich in CpG islands that potentially identify genes, some of which may be involved in the various phenotypes associated with the WAGR syndrome. This is consistent with the proposition that the majority of human genes are in G-negative bands.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: W A
authors.initials: WA
authors.lastname: Bickmore
authors.forename: D J
authors.initials: DJ
authors.lastname: Porteous
authors.forename: S
authors.initials: S
authors.lastname: Christie
authors.forename: A
authors.initials: A
authors.lastname: Seawright
authors.forename: J M
authors.initials: JM
authors.lastname: Fletcher
authors.forename: J C
authors.initials: JC
authors.lastname: Maule
authors.forename: P
authors.initials: P
authors.lastname: Couillin
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: N D
authors.initials: ND
authors.lastname: Hastie
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
mesh_terms: D000818:Animals; D015783:Aniridia / Q000235:genetics*; D015139:Blotting, Southern; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004247:DNA / Q000302:isolation & purification*; D015226:Dinucleoside Phosphates / Q000032:analysis; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D007680:Kidney Neoplasms / Q000235:genetics*; D051379:Mice; D015183:Restriction Mapping; D013577:Syndrome; D014178:Translocation, Genetic; D014564:Urogenital Abnormalities; D009396:Wilms Tumor / Q000235:genetics*
chemical_list: D004247:DNA; D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide