Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma

Punnett, Angela; Teshima, Ikuko; Hèon, Elise; Budning, Andrew S.; Sutherland, Joanne; Gallie, Brenda L.; Chan, Helen S. L.

doi:10.1002/ajmg.a.20116

Cited by 6 publications

(6 citation statements)

References 28 publications

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“…Tumor suppressor gene(s) located at this novel 6q23.1 homozygous deletion region may be inactivated by the mechanisms of chromosomal deletion and inactivation by translocation. Inactivation of tumor suppressor genes by deletion and translocation were commonly reported, such as in the tumor suppressor genes of RB1, WT1, and FHIT genes (37,38). Deletion of chromosome 6q23 was also common to diverse tumor types, such as pancreatic cancer, hepatocellular carcinomas, gastric cancer, ovarian cancer, leukemia, etc.…”

Section: Discussionmentioning

confidence: 99%

Identification of a Novel Homozygous Deletion Region at 6q23.1 in Medulloblastomas Using High-Resolution Array Comparative Genomic Hybridization Analysis

Hui

Takano

et al. 2005

Clinical Cancer Research

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Purpose:The aim of this study is to comprehensively characterize genome copy number aberrations in medulloblastomas using high-resolution array comparative genomic hybridization. Experimental Design: High-density genomic arrays containing 1,803 BAC clones were used to define recurrent chromosomal regions of gains or losses throughout the whole genome of medulloblastoma. A series of 3 medulloblastoma cell lines and 16 primary tumors were investigated. Results: The detected consistent chromosomal aberrations included gains of 1q21.3-q23.1 (36.8%), 1q32.1 (47.4%), 2p23.1-p25.3 (52.6%), 7 (57.9%), 9q34.13-q34.3 (47.4%), 17p11.2-q25.3 (89.5%), and 20q13.31-q13.33 (42.1%), as well as losses of 3q26.1 (57.9%), 4q31.23-q32.3 (42.1%), 6q23.1-25.3 (57.9 %), 8p22-23.3 (79 %), 10q24.32-26.2 (57.9 %), and 16q23.2-q24.3 (63.2%). One of the most notable aberrations was a homozygous deletion on chromosome 6q23 in the cell line DAOY, and single copy loss on 30.3% primary tumors. Further analyses defined a 0.887 Mbp minimal region of homozygous deletion at 6q23.1 flanked by markers SHGC-14149 (6q22.33) and SHGC-110551 (6q23.1). Quantitative reverse transcription-PCR analysis showed complete loss of expression of two genes located at 6q23.1, AK091351 (hypothetical protein FLJ34032) and KIAA1913, in the cell line DAOY. mRNA levels of these genes was reduced in cell lines D283 and D384, and in 50% and 70% of primary tumors, respectively. Conclusion: Current array comparative genomic hybridization analysis generates a comprehensive pattern of chromosomal aberrations in medulloblastomas.This information will lead to a better understanding of medulloblastoma tumorigenesis. The delineated regions of gains or losses will indicate locations of medulloblastoma-associated genes. A 0.887 Mbp homozygous deletion region was newly identified at 6q23.1. Frequent detection of reduced expression of AK091351 and KIAA1913 genes implicates them as suppressors of medulloblastoma tumorigenesis.

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Section: Discussionmentioning

confidence: 99%

Identification of a Novel Homozygous Deletion Region at 6q23.1 in Medulloblastomas Using High-Resolution Array Comparative Genomic Hybridization Analysis

Hui

Takano

et al. 2005

Clinical Cancer Research

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“…Chromosome deletions and rearrangements may significantly impact the risk that another child in the family will be affected. 70,71 With current technology, a mutation cannot be identified in 5% of Rb families. It is important to retain the clinical samples from these persons for future studies whenever new technology becomes available ( Fig.…”

Section: Genetic Testing For Bilateral and Unilateral Familial Retinomentioning

confidence: 99%

“…Les délétions et réarrangements chromosomiques peuvent marquer de façon significative le risque qu'un autre enfant de la famille soit affecté. 70,71 La technologie actuelle ne permet pas d'identifier une mutation chez 5 % des familles touchées par le Rb. Il importe donc de conserver les spécimens cliniques de ces personnes pour d'éventuelles études lorsque de nouvelles technologies deviendront disponibles (Figure 4).…”

Section: L'examen Génétique Du Rétinoblastome Bilatéral Et Unilatéralunclassified

National retinoblastoma strategy Canadian guidelines for care

2009

Canadian Journal of Ophthalmology

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“…The retinas of mice that lack WT1 display increased levels of cell death and are thus thinner and contain fewer retinal ganglion cells (Wagner et al, 2002a). Certain WT1 mutant alleles are also associated with some versions of retinoblastoma (Wagner et al, 2002b; Punnett et al, 2003). klumpfuss ( klu ), the Drosophila homolog of WT1, contributes to the development of the Drosophila retina by regulating cell death levels (Rusconi et al, 2004; Wildonger et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

The Drosophila Wilms׳ Tumor 1-Associating Protein (WTAP) homolog is required for eye development

Anderson

Weasner

et al. 2014

Developmental Biology

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Summary Sine Oculis (So), the founding member of the SIX family of homeobox transcription factors, binds to sequence specific DNA elements and regulates transcription of downstream target genes. It does so, in part, through the formation of distinct biochemical complexes with Eyes Absent (Eya) and Groucho (Gro). While these complexes play significant roles during development, they do not account for all So-dependent activities in Drosophila. It is thought that additional So-containing complexes make important contributions as well. This contention is supported by the identification of nearly two-dozen additional proteins that complex with So. However, very little is known about the roles that these additional complexes play in development. In this report we have used yeast two-hybrid screens and co-immunoprecipitation assays from Kc167 cells to identify a biochemical complex consisting of So and Fl(2)d, the Drosophila homolog of human Wilms’ Tumor 1-Associating Protein (WTAP). We show that Fl(2)d protein is distributed throughout the entire eye-antennal imaginal disc and that loss-of-function mutations lead to perturbations in retinal development. The eye defects are manifested behind the morphogenetic furrow and result in part from increased levels of the pan-neuronal RNA binding protein Embryonic Lethal Abnormal Vision (Elav) and the RUNX class transcription factor Lozenge (Lz). We also provide evidence that So and Fl(2)d interact genetically in the developing eye. Wilms’ tumor-1 (WT1), a binding partner of WTAP, is required for normal eye formation in mammals and loss-of-function mutations are associated with some versions of retinoblastoma. In contrast, WTAP and its homologs have not been implicated in eye development. To our knowledge, the results presented in this report are the first description of a role for WTAP in the retina of any seeing animal.

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Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma

Cited by 6 publications

References 28 publications

Identification of a Novel Homozygous Deletion Region at 6q23.1 in Medulloblastomas Using High-Resolution Array Comparative Genomic Hybridization Analysis

Identification of a Novel Homozygous Deletion Region at 6q23.1 in Medulloblastomas Using High-Resolution Array Comparative Genomic Hybridization Analysis

National retinoblastoma strategy Canadian guidelines for care

The Drosophila Wilms׳ Tumor 1-Associating Protein (WTAP) homolog is required for eye development

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