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

J. M. Risk, C. Ruhrberg, H. C. Hennies, H. S. Mills, T. Di Colandrea, K. E. Evans, A. Ellis, F. M. Watt, D. T. Bishop, N. K. Spurr, H. P. Stevens, I. M. Leigh, A. Reis, D. P. Kelsell, J. K. Field

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Focal nonepidermolytic palmoplantar keratoderma (NEPPK), or tylosis, is an autosomal, dominantly inherited disorder of the skin that manifests as focal thickening of the palmar and plantar surfaces. In three families studied, the skin disorder cosegregates with esophageal cancer and oral lesions. New haplotype analysis, presented here, places the tylosis esophageal cancer (TOC) locus between D17S1839 and D17S785. Envoplakin (EVPL) is a protein component of desmosomes and the cornified envelope that is expressed in epidermal and esophageal keratinocytes and has been localized to the TOC region. Mutation analysis of EVPL in the three affected families failed to show tylosis-specific mutations, and haplotype analysis of three intragenic sequence polymorphisms of the EVPL gene placed it proximal to D17S1839. Confirmation of the exclusion of EVPL as the TOC gene by location was obtained by integration of the genetic and physical mapping data using radiation hybrid, YAC, BAC, and PAC clones. This new physical map will allow further identification of candidate genes underlying NEPPK associated with esophageal cancer, which may also be implicated in the development of sporadic squamous cell esophageal carcinoma and Barrett's adenocarcinoma.

LanguageEnglish
Pages234-242
Number of pages9
JournalGenomics
Volume59
Issue number2
DOIs
Publication statusPublished - 15 Jul 1999
Externally publishedYes

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Keratoderma, Palmoplantar, Diffuse
Esophageal Neoplasms
Genes
Haplotypes
Physical Chromosome Mapping
Radiation Hybrid Mapping
Desmosomes
Skin
Mutation
Neoplasm Genes
Mouth Neoplasms
Genetic Association Studies
Keratinocytes
Adenocarcinoma
Clone Cells
Hyperkeratosis of the palms and soles and esophageal papillomas
envoplakin

Cite this

Risk, J. M. ; Ruhrberg, C. ; Hennies, H. C. ; Mills, H. S. ; Di Colandrea, T. ; Evans, K. E. ; Ellis, A. ; Watt, F. M. ; Bishop, D. T. ; Spurr, N. K. ; Stevens, H. P. ; Leigh, I. M. ; Reis, A. ; Kelsell, D. P. ; Field, J. K. / Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC) : The Integration of Genetic and Physical Maps of the TOC Region on 17q25. In: Genomics. 1999 ; Vol. 59, No. 2. pp. 234-242.
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abstract = "Focal nonepidermolytic palmoplantar keratoderma (NEPPK), or tylosis, is an autosomal, dominantly inherited disorder of the skin that manifests as focal thickening of the palmar and plantar surfaces. In three families studied, the skin disorder cosegregates with esophageal cancer and oral lesions. New haplotype analysis, presented here, places the tylosis esophageal cancer (TOC) locus between D17S1839 and D17S785. Envoplakin (EVPL) is a protein component of desmosomes and the cornified envelope that is expressed in epidermal and esophageal keratinocytes and has been localized to the TOC region. Mutation analysis of EVPL in the three affected families failed to show tylosis-specific mutations, and haplotype analysis of three intragenic sequence polymorphisms of the EVPL gene placed it proximal to D17S1839. Confirmation of the exclusion of EVPL as the TOC gene by location was obtained by integration of the genetic and physical mapping data using radiation hybrid, YAC, BAC, and PAC clones. This new physical map will allow further identification of candidate genes underlying NEPPK associated with esophageal cancer, which may also be implicated in the development of sporadic squamous cell esophageal carcinoma and Barrett's adenocarcinoma.",
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Risk, JM, Ruhrberg, C, Hennies, HC, Mills, HS, Di Colandrea, T, Evans, KE, Ellis, A, Watt, FM, Bishop, DT, Spurr, NK, Stevens, HP, Leigh, IM, Reis, A, Kelsell, DP & Field, JK 1999, 'Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25', Genomics, vol. 59, no. 2, pp. 234-242. https://doi.org/10.1006/geno.1999.5857

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, J. M.; Ruhrberg, C.; Hennies, H. C.; Mills, H. S.; Di Colandrea, T.; Evans, K. E.; Ellis, A.; Watt, F. M.; Bishop, D. T.; Spurr, N. K.; Stevens, H. P.; Leigh, I. M.; Reis, A.; Kelsell, D. P.; Field, J. K.

In: Genomics, Vol. 59, No. 2, 15.07.1999, p. 234-242.

Research output: Contribution to journalArticle

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T1 - Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC)

T2 - Genomics

AU - Risk, J. M.

AU - Ruhrberg, C.

AU - Hennies, H. C.

AU - Mills, H. S.

AU - Di Colandrea, T.

AU - Evans, K. E.

AU - Ellis, A.

AU - Watt, F. M.

AU - Bishop, D. T.

AU - Spurr, N. K.

AU - Stevens, H. P.

AU - Leigh, I. M.

AU - Reis, A.

AU - Kelsell, D. P.

AU - Field, J. K.

PY - 1999/7/15

Y1 - 1999/7/15

N2 - Focal nonepidermolytic palmoplantar keratoderma (NEPPK), or tylosis, is an autosomal, dominantly inherited disorder of the skin that manifests as focal thickening of the palmar and plantar surfaces. In three families studied, the skin disorder cosegregates with esophageal cancer and oral lesions. New haplotype analysis, presented here, places the tylosis esophageal cancer (TOC) locus between D17S1839 and D17S785. Envoplakin (EVPL) is a protein component of desmosomes and the cornified envelope that is expressed in epidermal and esophageal keratinocytes and has been localized to the TOC region. Mutation analysis of EVPL in the three affected families failed to show tylosis-specific mutations, and haplotype analysis of three intragenic sequence polymorphisms of the EVPL gene placed it proximal to D17S1839. Confirmation of the exclusion of EVPL as the TOC gene by location was obtained by integration of the genetic and physical mapping data using radiation hybrid, YAC, BAC, and PAC clones. This new physical map will allow further identification of candidate genes underlying NEPPK associated with esophageal cancer, which may also be implicated in the development of sporadic squamous cell esophageal carcinoma and Barrett's adenocarcinoma.

AB - Focal nonepidermolytic palmoplantar keratoderma (NEPPK), or tylosis, is an autosomal, dominantly inherited disorder of the skin that manifests as focal thickening of the palmar and plantar surfaces. In three families studied, the skin disorder cosegregates with esophageal cancer and oral lesions. New haplotype analysis, presented here, places the tylosis esophageal cancer (TOC) locus between D17S1839 and D17S785. Envoplakin (EVPL) is a protein component of desmosomes and the cornified envelope that is expressed in epidermal and esophageal keratinocytes and has been localized to the TOC region. Mutation analysis of EVPL in the three affected families failed to show tylosis-specific mutations, and haplotype analysis of three intragenic sequence polymorphisms of the EVPL gene placed it proximal to D17S1839. Confirmation of the exclusion of EVPL as the TOC gene by location was obtained by integration of the genetic and physical mapping data using radiation hybrid, YAC, BAC, and PAC clones. This new physical map will allow further identification of candidate genes underlying NEPPK associated with esophageal cancer, which may also be implicated in the development of sporadic squamous cell esophageal carcinoma and Barrett's adenocarcinoma.

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