Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia

Mannens, Marcel M.A.M.; Hoovers, J. M. N.; Redeker, E.; Verjaal, M.; Feinberg, Andrew P.; Little, Peter; Boavida, Maria Guida; Coad, Jane; Steenman, Marja; Bliek, Jet

doi:10.1159/000472337

Cited by 104 publications

(55 citation statements)

References 72 publications

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“…Our data also revealed reciprocal LOI of the H19 and IGF2 in the majority of heterozygous tumors for both genes and suggest that imprinting of these genes may be a tissue organ-and/or tumor-speci®c process (DeChiara et al, 1991;Jinno et al, 1994;Van Roozendaal et al, 1998;Verkerk et al, 1997). In contrast to studies of Wilms' tumor, sporadic hepatoblastoma and rhabdomyosarcoma (Fukuzawa et al, 1999;Hao et al, 1993;Rainier et al, 1993;Steenman et al, 1994), the presence of biallelic expression of H19 in our study and others (Li et al, 1997;Rachmilewitz et al, 1996;Verkerk et al, 1997) may argue against a tumor suppressor role in favor of an oncogene-like function for this gene (Kim et al, 1998;Li et al, 1997;Mannens et al, 1994). However, the lack of correlation between the expression level of H19 and LOI in some studies suggest that a tumor suppressor function cannot be ruled out (Zhan et al, 1995).…”

Section: Discussioncontrasting

confidence: 79%

Frequent loss of imprinting at the IGF2 and H19 genes in head and neck squamous carcinoma

et al. 1999

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Genomic imprinting is an inherited epigenetic phenomenon that results in parental ± origin ± speci®c gene expression in somatic cells. Relaxation or loss of this feature in certain genes has been demonstrated in several pediatric and adult neoplasms, suggesting an association with tumorigenesis. We analysed 64 primary untreated head and neck squamous carcinoma for the loss of imprinting in the IGF2 and H19 genes to determine the implications of this alteration in the development and progression of these tumors. Forty-nine (77%) of the 64 tumors were informative for imprinting analyses of these genes. IGF2 and H19 were imprinted in all normal squamous epithelium examined. Twelve (37.5%) of 32 tumors informative for H19 and 11 (40.7%) of 27 tumors informative for IGF2 manifested loss of imprinting. Ten tumors were informative for both genes, of which four maintained the constitutional imprinting and six showed loss of imprinting at either H19 or IGF2. These data suggest that loss of imprinting at the IGF2 and H19 loci play a role in the oncogenesis of head and neck carcinoma.

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Section: Discussioncontrasting

confidence: 79%

Frequent loss of imprinting at the IGF2 and H19 genes in head and neck squamous carcinoma

et al. 1999

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“…Patient #27 was previously described as having paternal origin duplication of 11p. 7 Whether the chromosomal abnormalities in the remaining two cases (#30 and #31) were of paternal origin was unknown. Although patient #32, who suffered from umbilical hernia, macroglossia, ear creases, and ear pits, had a translocation, it did not involve 11p or any molecular abnormalities.…”

Section: Different Causative Alterations In Japanese Bws K Sasaki Et Almentioning

confidence: 99%

Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

et al. 2007

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Beckwith -Wiedemann syndrome (BWS) is an imprinting-related human disease. The frequencies of causative alterations such as loss of methylation (LOM) of KvDMR1, hypermethylation of H19-DMR, paternal uniparental disomy, CDKN1C gene mutation, and chromosome abnormality have been described for North American and European patients, but the corresponding frequencies in Japanese patients have not been measured to date. Analysis of 47 Japanese cases of BWS revealed a significantly lower frequency of H19-DMR hypermethylation and a higher frequency of chromosome abnormality than in North American and European patients. These results suggest that susceptibility to epigenetic and genetic alterations differs between the two groups.

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“…Genetic findings of BWS are also complex and classified into the following four classes: (1) familial cases whose disorders are all derived through females; (2) translocation cases with breakpoints at 1 l p15, all maternally derived; (3) t l p 15 duplications, all paternally derived; (4) paternal UPD involving Ilp15.5 observed in some karyotypically normal patients. To explain the above four findings, a hypothesis was proposed (Mannens et al, 1994): in the l lp15 region, there must be the paternally expressed BWS locus (BI4/) and the maternally expressed control locus (CL) that suppressively control B W (Fig. 5).…”

Section: Beckwith-wiedemann Syndrom (Bws)mentioning

confidence: 99%

Genomic imprinting and its relevance to genetic diseases

Niikawa

1996

Jap J Human Genet

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SummaryGenomic imprinting is a biological phenomenon determined by an evolutionally acquired, underlying system that may control harmonious development and growth in mammals. It is also relevant to some genetic disorders in man. In this article, lines of biological evidence of imprinting, characteristics of the mouse and human imprinted genes, and findings and mechanisms on the occurrence of several human imprinting disorders are reviewed.

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Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia

Cited by 104 publications

References 72 publications

Frequent loss of imprinting at the IGF2 and H19 genes in head and neck squamous carcinoma

Frequent loss of imprinting at the IGF2 and H19 genes in head and neck squamous carcinoma

Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

Genomic imprinting and its relevance to genetic diseases

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