scholarly journals Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803 ◽  
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

scholarly journals Association ofXmnI Polymorphism and Hemoglobin E Haplotypes on Postnatal Gamma Globin Gene Expression in Homozygous Hemoglobin E

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Supachai Ekwattanakit ◽  
Yuwarat Monteerarat ◽  
Suchada Riolueang ◽  
Kalaya Tachavanich ◽  
Vip Viprakasit
Keyword(s):  
Gene Expression ◽  
Globin Gene ◽  
Laboratory Data ◽  
Regulatory Sequences ◽  
Chromosome 11 ◽  
Hemoglobin E ◽  
Association Analyses ◽  
Gamma Globin ◽  
Hb E ◽  
Globin Gene Expression

Background and Objectives. To explore the role ofcis-regulatory sequences within theβglobin gene cluster at chromosome 11 on humanγglobin gene expression related to Hb E allele, we analyze baseline hematological data and Hb F values together withβglobin haplotypes in homozygous Hb E.Patients and Methods. 80 individuals with molecularly confirmed homozygous Hb E were analyzed for theβglobin haplotypes andXmnI polymorphism using PCR-RFLPs. 74 individuals with complete laboratory data were further studied for association analyses.Results. Eight differentβglobin haplotypes were found linked to Hb E alleles; three major haplotypes were (a) (III), (b) (V), and (c) (IV) accounting for 94% of Hb E chromosomes. A new haplotype (Th-1) was identified and most likely converted from the major ones. The majority of individuals had Hb F < 5%; only 10.8% of homozygous Hb E had high Hb F (average 10.5%, range 5.8–14.3%). No association was found on a specific haplotype orXmnI in these individuals with high Hb F, measured by alkaline denaturation. Conclusion. The cis-regulation ofγglobin gene expression might not be apparent under a milder condition with lesser globin imbalance such as homozygous Hb E.

scholarly journals Analysis of mice containing a targeted deletion of beta-globin locus control region 5' hypersensitive site 3.

1996 ◽  
Vol 16 (6) ◽  
pp. 2906-2912 ◽  
Author(s):  
B A Hug ◽  
R L Wesselschmidt ◽  
S Fiering ◽  
M A Bender ◽  
E Epner ◽  
...  
Keyword(s):  
Developmental Stages ◽  
Germ Line ◽  
Globin Gene ◽  
Globin Genes ◽  
Beta Globin ◽  
Erythroid Cells ◽  
Hypersensitive Site ◽  
Targeted Deletion ◽  
Gamma Globin ◽  
Gene Switching

To examine the function of murine beta-globin locus region (LCR) 5' hypersensitive site 3 (HS3) in its native chromosomal context, we deleted this site from the mouse germ line by using homologous recombination techniques. Previous experiments with human 5' HS3 in transgenic models suggested that this site independently contains at least 50% of total LCR activity and that it interacts preferentially with the human gamma-globin genes in embryonic erythroid cells. However, in this study, we demonstrate that deletion of murine 5' HS3 reduces expression of the linked embryonic epsilon y- and beta H 1-globin genes only minimally in yolk sac-derived erythroid cells and reduces output of the linked adult beta (beta major plus beta minor) globin genes by approximately 30% in adult erythrocytes. When the selectable marker PGK-neo cassette was left within the HS3 region of the LCR, a much more severe phenotype was observed at all developmental stages, suggesting that PGK-neo interferes with LCR activity when it is retained within the LCR. Collectively, these results suggest that murine 5' HS3 is not required for globin gene switching; importantly, however, it is required for approximately 30% of the total LCR activity associated with adult beta-globin gene expression in adult erythrocytes.

Chromosomal Imbalance in the Aniridia-Wilms' Tumor Association: 11p Interstitial Deletion

PEDIATRICS ◽  
1978 ◽  
Vol 61 (4) ◽  
pp. 604-610 ◽  
Author(s):  
Vincent M. Riccardi ◽  
Eva Sujansky ◽  
Ann C. Smith ◽  
Uta Francke
Keyword(s):  
Mental Retardation ◽  
Birth Defect ◽  
Wilms Tumor ◽  
Ambiguous Genitalia ◽  
Interstitial Deletion ◽  
Clinical Feature ◽  
Chromosome 11 ◽  
Chromosomal Imbalance ◽  
Characteristic Clinical Feature ◽  
Tumor Association

The triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) is the characteristic clinical feature of three unrelated patients with previously unreported chromosome 11 short arm interstitial deletions. A Wilms' tumor in one patient establishes one cause for the aniridia-Wilms' tumor association. The genetic heterogeneity of aniridia, the AGR triad, and Wilms' tumor are demonstrated, and Wilms' tumor is indicated to be a neoplastic birth defect which can result from a variety of embryologic insults, some of which may be chromosomal or heritable.

scholarly journals Aniridia, Gonadoblastoma, Wilms' Tumor and Deletion 11p13

1998 ◽  
Vol 41 (1) ◽  
pp. 29-33
Author(s):  
Hvězdoslav Stefan ◽  
Vladimír Semecký
Keyword(s):  
Mental Retardation ◽  
Wilms Tumor ◽  
Mentally Retarded ◽  
Tumor Diagnosis ◽  
Common Finding ◽  
Chromosome 11 ◽  
Early Occurrence

An incidence of bilateral gonadoblastoma in a 23-month old, mentally retarded boy with congenital sporadic aniridia, undescended dysgenetic testes, deletion of a chromosome (11) (p1302p14.2) and a later occurring unilateral Wilms' tumor is reported. The patient was treated by bilateral gonadectomy, nephrectomy, and chemotherapy, and is alive and well five years later. Another three aniridia/gonablastoma observations from the literature are discussed, two of them without and one in combination with Wilms' tumor. Diagnosis of gonadoblastoma remained unsuspected in two cases until autopsy and in another two cases it was done at surgery. A comparison of four cases reveals common finding - aniridia, dysgentic gonads, genital abnormalities, mental retardation, deletion of 11p13, early occurrence and bilaterality of gonadoblastoma.

scholarly journals А clinical case of WAGRO syndrome

2020 ◽  
Vol 15 (2) ◽  
pp. 19-24
Author(s):  
Natella V. Sukhanova ◽  
Ludmila A. Katargina ◽  
Rena A. Zinchenko ◽  
Andrey V. Marakhonov ◽  
Tatjana A. Vasilieva
Keyword(s):  
Mental Retardation ◽  
Clinical Case ◽  
Wilms Tumor ◽  
Chromosome 11 ◽  
Genetic Syndrome ◽  
Genitourinary System ◽  
Speech Delays ◽  
Dependent Probe

WAGRO syndrome is a rare genetic syndrome that includes Wilms tumor, aniridia, genitourinary system abnormalities, mental retardation, and obesity. The syndrome is associated with deletions of the short arm of chromosome 11 (11p), where the PAX6 and WT1 genes are located. We present the clinical case of a 7-year-old boy with aniridia, polar cataract, and concomitant neuromotor, psychomotor, and speech delays. Evaluation of the childs karyotype followed by confirmation using multiplex ligation-dependent probe amplification showed the presence of a deletion including in the 11p13-p14 region.

566: Comparative Genomic Hybridization of Chemotherapy Survived Wilms' Tumor Cells

2004 ◽  
Vol 171 (4S) ◽  
pp. 150-151
Author(s):  
Thorsten Schlomm ◽  
Bastian Gunawan ◽  
Hans J. Schulten ◽  
Norbert Graf ◽  
Ivo Leuschner ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Comparative Genomic Hybridization ◽  
Wilms Tumor ◽  
Comparative Genomic ◽  
Genomic Hybridization

Suppression of tumorigenicity in Wilms tumor by the p15.5-p14 region of chromosome 11

Science ◽  
1991 ◽  
Vol 254 (5029) ◽  
pp. 293-295 ◽  
Author(s):  
S. Dowdy ◽  
C. Fasching ◽  
D Araujo ◽  
K. Lai ◽  
E Livanos ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Chromosome 11

scholarly journals Genomic Imprinting of Dopa decarboxylase in Heart and Reciprocal Allelic Expression with Neighboring Grb10

2007 ◽  
Vol 28 (1) ◽  
pp. 386-396 ◽  
Author(s):  
Trevelyan R. Menheniott ◽  
Kathryn Woodfine ◽  
Reiner Schulz ◽  
Andrew J. Wood ◽  
David Monk ◽  
...  
Keyword(s):  
Genomic Imprinting ◽  
Promoter Region ◽  
Germ Line ◽  
Differential Methylation ◽  
Dopa Decarboxylase ◽  
Imprinted Genes ◽  
Chromosome 11 ◽  
Imprinted Gene ◽  
Line Methylation ◽  
Intron 1

ABSTRACT By combining a tissue-specific microarray screen with mouse uniparental duplications, we have identified a novel imprinted gene, Dopa decarboxylase (Ddc), on chromosome 11. Ddc_exon1a is a 2-kb transcript variant that initiates from an alternative first exon in intron 1 of the canonical Ddc transcript and is paternally expressed in trabecular cardiomyocytes of the embryonic and neonatal heart. Ddc displays tight conserved linkage with the maternally expressed and methylated Grb10 gene, suggesting that these reciprocally imprinted genes may be coordinately regulated. In Dnmt3L mutant embryos that lack maternal germ line methylation imprints, we show that Ddc is overexpressed and Grb10 is silenced. Their imprinting is therefore dependent on maternal germ line methylation, but the mechanism at Ddc does not appear to involve differential methylation of the Ddc_exon1a promoter region and may instead be provided by the oocyte mark at Grb10. Our analysis of Ddc redefines the imprinted Grb10 domain on mouse proximal chromosome 11 and identifies Ddc_exon1a as the first example of a heart-specific imprinted gene.

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