Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759

Silke Appel, Matthias Filter, André Reis, Hans Christian Hennies, Anton Bergheim, Emma Ogilvie, Silke Arndt, Andrew Simmons, Michael Lovett, Winston Hide, Michèle Ramsay, Kathrin Reichwald, Wolfgang Zimmermann, André Rosenthal

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Keratolytic winter erythema is an autosomal dominant skin disorder characterised by erythema, hyperkeratosis, and peeling of the skin of the palms and soles, especially during winter. The keratolytic winter erythema locus has been mapped to human chromosome 8p22-p23. This chromosomal region has also been associated with frequent loss of heterozygosity in different types of cancer. To identify positional candidate genes for keratolytic winter erythema, a BAC contig located between the markers at D8S550 and D8S1695 was constructed and sequenced. It could be extended to D8S1759 by a partially sequenced BAC clone identified by database searches. In the 634 404 bp contig 13 new polymorphic microsatellite loci and 46 single nucleotide and insertion/deletion polymorphisms were identified. Twelve transcripts were identified between D8S550 and D8S1759 by exon trapping, cDNA selection, and sequence analyses. They were localised on the genomic sequence, their exon/intron structure was determined, and their expression analysed by RT-PCR. Only one of the transcripts corresponds to a known gene, encoding B-lymphocyte specific tyrosine kinase, BLK. A putative novel myotubularin-related protein gene (MTMR8), a potential human homologue of the mouse acyl-malonyl condensing enzyme gene (Amac1), and two transcripts showing similarities to the mouse L-threonine 3-dehydrogenase gene and the human SEC oncogene, respectively, were identified. The remaining seven transcripts did not show similarities to known genes. There were no potentially pathogenic mutations identified in any of these transcripts in keratolytic winter erythema patients.

LanguageEnglish
Pages17-25
Number of pages9
JournalEuropean Journal of Human Genetics
Volume10
Issue number1
DOIs
Publication statusPublished - 28 Feb 2002
Externally publishedYes

Fingerprint

Chromosomes
Genes
L-threonine 3-dehydrogenase
Exons
Skin
Loss of Heterozygosity
Human Chromosomes
Erythema
Oncogenes
Microsatellite Repeats
Protein-Tyrosine Kinases
Introns
Sequence Analysis
B-Lymphocytes
Nucleotides
Complementary DNA
Clone Cells
Keratolytic winter erythema
Databases
Polymerase Chain Reaction

Cite this

Appel, Silke ; Filter, Matthias ; Reis, André ; Hennies, Hans Christian ; Bergheim, Anton ; Ogilvie, Emma ; Arndt, Silke ; Simmons, Andrew ; Lovett, Michael ; Hide, Winston ; Ramsay, Michèle ; Reichwald, Kathrin ; Zimmermann, Wolfgang ; Rosenthal, André. / Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. In: European Journal of Human Genetics. 2002 ; Vol. 10, No. 1. pp. 17-25.
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title = "Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759",
abstract = "Keratolytic winter erythema is an autosomal dominant skin disorder characterised by erythema, hyperkeratosis, and peeling of the skin of the palms and soles, especially during winter. The keratolytic winter erythema locus has been mapped to human chromosome 8p22-p23. This chromosomal region has also been associated with frequent loss of heterozygosity in different types of cancer. To identify positional candidate genes for keratolytic winter erythema, a BAC contig located between the markers at D8S550 and D8S1695 was constructed and sequenced. It could be extended to D8S1759 by a partially sequenced BAC clone identified by database searches. In the 634 404 bp contig 13 new polymorphic microsatellite loci and 46 single nucleotide and insertion/deletion polymorphisms were identified. Twelve transcripts were identified between D8S550 and D8S1759 by exon trapping, cDNA selection, and sequence analyses. They were localised on the genomic sequence, their exon/intron structure was determined, and their expression analysed by RT-PCR. Only one of the transcripts corresponds to a known gene, encoding B-lymphocyte specific tyrosine kinase, BLK. A putative novel myotubularin-related protein gene (MTMR8), a potential human homologue of the mouse acyl-malonyl condensing enzyme gene (Amac1), and two transcripts showing similarities to the mouse L-threonine 3-dehydrogenase gene and the human SEC oncogene, respectively, were identified. The remaining seven transcripts did not show similarities to known genes. There were no potentially pathogenic mutations identified in any of these transcripts in keratolytic winter erythema patients.",
keywords = "Transcript map, Physical map, 8p22-p23, Keratolytic winter erythema, KWE, BLK",
author = "Silke Appel and Matthias Filter and Andr{\'e} Reis and Hennies, {Hans Christian} and Anton Bergheim and Emma Ogilvie and Silke Arndt and Andrew Simmons and Michael Lovett and Winston Hide and Mich{\`e}le Ramsay and Kathrin Reichwald and Wolfgang Zimmermann and Andr{\'e} Rosenthal",
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Appel, S, Filter, M, Reis, A, Hennies, HC, Bergheim, A, Ogilvie, E, Arndt, S, Simmons, A, Lovett, M, Hide, W, Ramsay, M, Reichwald, K, Zimmermann, W & Rosenthal, A 2002, 'Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759', European Journal of Human Genetics, vol. 10, no. 1, pp. 17-25. https://doi.org/10.1038/sj/ejhg/5200750

Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. / Appel, Silke; Filter, Matthias; Reis, André; Hennies, Hans Christian; Bergheim, Anton; Ogilvie, Emma; Arndt, Silke; Simmons, Andrew; Lovett, Michael; Hide, Winston; Ramsay, Michèle; Reichwald, Kathrin; Zimmermann, Wolfgang; Rosenthal, André.

In: European Journal of Human Genetics, Vol. 10, No. 1, 28.02.2002, p. 17-25.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759

AU - Appel, Silke

AU - Filter, Matthias

AU - Reis, André

AU - Hennies, Hans Christian

AU - Bergheim, Anton

AU - Ogilvie, Emma

AU - Arndt, Silke

AU - Simmons, Andrew

AU - Lovett, Michael

AU - Hide, Winston

AU - Ramsay, Michèle

AU - Reichwald, Kathrin

AU - Zimmermann, Wolfgang

AU - Rosenthal, André

PY - 2002/2/28

Y1 - 2002/2/28

N2 - Keratolytic winter erythema is an autosomal dominant skin disorder characterised by erythema, hyperkeratosis, and peeling of the skin of the palms and soles, especially during winter. The keratolytic winter erythema locus has been mapped to human chromosome 8p22-p23. This chromosomal region has also been associated with frequent loss of heterozygosity in different types of cancer. To identify positional candidate genes for keratolytic winter erythema, a BAC contig located between the markers at D8S550 and D8S1695 was constructed and sequenced. It could be extended to D8S1759 by a partially sequenced BAC clone identified by database searches. In the 634 404 bp contig 13 new polymorphic microsatellite loci and 46 single nucleotide and insertion/deletion polymorphisms were identified. Twelve transcripts were identified between D8S550 and D8S1759 by exon trapping, cDNA selection, and sequence analyses. They were localised on the genomic sequence, their exon/intron structure was determined, and their expression analysed by RT-PCR. Only one of the transcripts corresponds to a known gene, encoding B-lymphocyte specific tyrosine kinase, BLK. A putative novel myotubularin-related protein gene (MTMR8), a potential human homologue of the mouse acyl-malonyl condensing enzyme gene (Amac1), and two transcripts showing similarities to the mouse L-threonine 3-dehydrogenase gene and the human SEC oncogene, respectively, were identified. The remaining seven transcripts did not show similarities to known genes. There were no potentially pathogenic mutations identified in any of these transcripts in keratolytic winter erythema patients.

AB - Keratolytic winter erythema is an autosomal dominant skin disorder characterised by erythema, hyperkeratosis, and peeling of the skin of the palms and soles, especially during winter. The keratolytic winter erythema locus has been mapped to human chromosome 8p22-p23. This chromosomal region has also been associated with frequent loss of heterozygosity in different types of cancer. To identify positional candidate genes for keratolytic winter erythema, a BAC contig located between the markers at D8S550 and D8S1695 was constructed and sequenced. It could be extended to D8S1759 by a partially sequenced BAC clone identified by database searches. In the 634 404 bp contig 13 new polymorphic microsatellite loci and 46 single nucleotide and insertion/deletion polymorphisms were identified. Twelve transcripts were identified between D8S550 and D8S1759 by exon trapping, cDNA selection, and sequence analyses. They were localised on the genomic sequence, their exon/intron structure was determined, and their expression analysed by RT-PCR. Only one of the transcripts corresponds to a known gene, encoding B-lymphocyte specific tyrosine kinase, BLK. A putative novel myotubularin-related protein gene (MTMR8), a potential human homologue of the mouse acyl-malonyl condensing enzyme gene (Amac1), and two transcripts showing similarities to the mouse L-threonine 3-dehydrogenase gene and the human SEC oncogene, respectively, were identified. The remaining seven transcripts did not show similarities to known genes. There were no potentially pathogenic mutations identified in any of these transcripts in keratolytic winter erythema patients.

KW - Transcript map

KW - Physical map

KW - 8p22-p23

KW - Keratolytic winter erythema

KW - KWE

KW - BLK

UR - http://www.scopus.com/inward/record.url?scp=0036124882&partnerID=8YFLogxK

U2 - 10.1038/sj/ejhg/5200750

DO - 10.1038/sj/ejhg/5200750

M3 - Article

VL - 10

SP - 17

EP - 25

JO - European Journal of Human Genetics

T2 - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 1

ER -