Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25

Risk, Janet M.; Ruhrberg, Christiana; Hennies, Hans Christian; Mills, H.S.; Colandrea, Teresa Di; Evans, K; Ellis, Anthony; Watt, Fiona M.; Bishop, D. Timothy; Spurr, Nigel K.; Stevens, Howard P.; Leigh, Irene M.; Reis, André; Kelsell, David P.; Field, John K.

doi:10.1006/geno.1999.5857

Cited by 34 publications

(37 citation statements)

References 24 publications

(25 reference statements)

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“…In the latter study, the highest frequency of LOH was observed in D17S801 in a series of sporadic tumors, and this locus overlaps the 17q24-25 interval which showed a signi®cant linkage to the tylosis-associated cancer susceptibility gene (TOC) (Kelsell et al, 1996). Recently, the location of the TOC was further de®ned by haplotype analysis to an interval of approximately 1 cM that includes D17S801 (Risk et al, 1999). The minimal region of deletion de®ned by the present study overlaps this interval.…”

Section: Discussionsupporting

confidence: 51%

“…In early studies, D17S722 was arbitrarily placed in the 17q25 region but its order relative to these markers was unknown (Plummer et al, 1997c). More recent genetic and physical maps of 17q25 establish the markers D17S795-D17S801-D17S722-D17S939-D17S802 in order to centromere to telomere (Risk et al, 1999) as shown in Figure 3. The placement of D17S937 distal to D17S722 is not inconsistent with this map order as another group has shown no evidence of recombination between D17S939 and D17S937 thus suggesting the close proximity of these two markers (Plummer et al, 1997c).…”

Section: Discussionmentioning

confidence: 99%

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Allelotyping defines minimal imbalance at chromosomal region 17q25 in non-serous epithelial ovarian cancers

et al. 2000

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Allelic deletions of multiple chromosome 17q loci in sporadic ovarian cancer of epithelial origin suggest that inactivation of tumor suppressor gene(s) in these regions may be important for ovarian tumorigenesis. To further de®ne the pattern of allelic imbalance in epithelial ovarian tumors of di erent histologies, a PCR-based assay was used to assess loss of heterozygosity (LOH) of polymorphic markers representative of TP53, BRCA1, NME1 and GH1, and region 17q23-25. LOH was observed for at least one marker in 68% of malignant tumors (n=60) and in 18% tumors of borderline malignancy (n=11), but not in benign tumors (n=5). The highest frequency of LOH in malignant tumors (64%) was observed with D17S801 on 17q25. Ten of 39 malignant ovarian tumors displaying LOH of at least one 17q marker, displayed a LOH pattern enabling the determination of a minimal region of overlapping deletion de®ned by D17S795 and D17S801. One borderline tumor also displayed an interstitial LOH pattern that overlapped this 17q25 minimal region of deletion. The histologies of malignant tumors displaying a pattern indicative of interstitial 17q deletions were of the endometrioid, clear cell and mucinous epithelial types. As the minimal region of overlap de®ned by these tumors overlap regions deleted in malignant tumors of all histologic types, and in a tumor of borderline malignancy, the 17q25-tumor suppressor may be implicated in the development of all types of epithelial ovarian tumors.

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Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Allelotyping defines minimal imbalance at chromosomal region 17q25 in non-serous epithelial ovarian cancers

et al. 2000

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“…No human diseases have so far been linked to the envoplakin gene. A skin disorder, focal nonepidermolytic palmoplantar keratoderma with esophageal cancer, is mapped to 17q25, but high resolution mapping and sequencing have excluded envoplakin as a candidate gene (32).…”

Section: Discussionmentioning

confidence: 99%

“…Sequencing of these clones revealed potential exons that could code for mouse envoplakin. We compared these exons with the human envoplakin cDNA sequence (13) and with the exon-intron structure of the human envoplakin gene (32). Finally, we performed reverse transcription-PCR on mouse keratinocytes to confirm the predicted size of the envoplakin transcript and sequenced several mouse envoplakin N-terminal cDNA fragments (not shown).…”

Section: The Mouse Envoplakin Gene Consists Of 22 Exons and Mapsmentioning

confidence: 99%

Structure and Regulation of the Envoplakin Gene

Määttå¹,

Ruhrberg²,

Watt

2000

Journal of Biological Chemistry

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Envoplakin, a member of the plakin family of proteins, is a component of desmosomes and the epidermal cornified envelope. To understand how envoplakin expression is regulated, we have analyzed the structure of the mouse envoplakin gene and characterized the promoters of both the human and mouse genes. The mouse gene consists of 22 exons and maps to chromosome 11E1, syntenic to the location of the human gene on 17q25. The exon-intron structure of the mouse envoplakin gene is common to all members of the plakin family: the Nterminal protein domain is encoded by 21 small exons, and the central rod domain and the C-terminal globular domain are coded by a single large exon. The C terminus shows the highest sequence conservation between mouse and human envoplakins and between envoplakin and the other family members. The N terminus is also conserved, with sequence homology extending to Drosophila Kakapo. A region between nucleotides ؊101 and 288 was necessary for promoter activity in transiently transfected primary keratinocytes. This region is highly conserved between the human and mouse genes and contains at least two different positively acting elements identified by site-directed mutagenesis and electrophoretic mobility shift assays. Mutation of a GC box binding Sp1 and Sp3 proteins or a combined E box and Krü ppel-like element interacting with unidentified nuclear proteins virtually abolished promoter activity. 600 base pairs of the mouse upstream sequence was sufficient to drive expression of a ␤-galactosidase reporter gene in the suprabasal layers of epidermis, esophagus, and forestomach of transgenic mice. Thus, we have identified a regulatory region in the envoplakin gene that can account for the expression pattern of the endogenous protein in stratified squamous epithelia.

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“…We ourselves have defined a commonly deleted region in breast cancers within the 1-cM interval between D17S1603 and D17S1839 on chromosome 17q25.1 (Fukino et al 1999). However, the genetic locus for TOC has recently been mapped to an equally narrow region flanked by D17S1839 and D17S785 (Risk et al 1999) that is immediately adjacent to the segment we defined in breast cancers. These observations make it highly likely that the 17q25.1 region contains more than one tumor suppressor gene.…”

Section: Introductionmentioning

confidence: 99%

Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers

et al. 2001

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Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25

Cited by 34 publications

References 24 publications

Allelotyping defines minimal imbalance at chromosomal region 17q25 in non-serous epithelial ovarian cancers

Allelotyping defines minimal imbalance at chromosomal region 17q25 in non-serous epithelial ovarian cancers

Structure and Regulation of the Envoplakin Gene

Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers

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