Regional mapping of catalase and Wilms tumor?aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305?p1306

Abstract

Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band. Case 1 had the aniridia-Wilms tumor association, and case 2 showed the AGR triad. The karyotypes identified by high resolution banding techniques were 46,XY,del(11)(pter----p13::p11.11----qter) for case 1 and 46,XY,t(2;17)(q23;q25),del(11)(pter----p13::p11.2----qter) for case 2. In both cases, the distal breakpoints of the deleted chromosomes 11 appeared to have occurred on the middle portion of 11p13 (11p1305----p1306). The level of erythrocyte CAT activities in case 1 was reduced (47% of normal), while that in case 2 was normal. The results suggested not only that both the CAT and WAGR should be mapped to chromosome region 11p1305----p1306, but also that in this region the CAT locus is more distally placed than the WAGR locus. Because of the proximity of the two gene loci, assays of erythrocyte CAT may be useful to identify a submicroscopic deletion in some patients with sporadic aniridia and to predict a risk of developing Wilms tumor.

The Histone Methyltransferase Enzyme Enhancer of Zeste Homolog 2 Protects against Podocyte Oxidative Stress and Renal Injury in Diabetes

“…Its gene is separated by only 750 kb from the gene encoding WT1 on the short arm of chromosome 11 in the human genome (approximately 450 kb apart on chromosome 2 in mice), and genetic deletions in this region can cause WAGR syndrome characterized by Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly known as mental retardation). 43 Intriguingly, unlike in the setting of diabetes, we conversely and unexpectedly observed a protective effect of DZNep when it was administered to mice before IRI. Although this response warrants further mechanistic investigation, it does serve to highlight the pervasive and most importantly, context-specific effects that histone modifications and histone-modifying interventions can play in adult kidney (patho)physiology.…”

Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13

“…1979). Patients with this condition are often heterozygous for deletion of part of the short arm of chromo some 11. in each case encompassing a specific region of band 11 pi 3 (Narahara et al, 1984;Turleau et al, 1984). These deletions prob ably overlap a cluster of linked genes that control the development of the kidney, iris, and urogenital tract.…”

Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II.

“…The catalase gene and the Wilm tumor-aniridia-genitourinary abnormalities-mental retardation complex (WAGR) have been mapped to llpl3.05-p13.06 by analysis of gene dosage in individuals with various deletions of 11p13 (18,19). Bruns et al (20) used synthetic oligonucleotide mixtures to isolate catalase cDNA and showed an absence of the gene in chromosome 11 variants containing deletions of 11p13.…”