Genetic Analysis of the Epidermal Differentiation Complex (EDC) on Human Chromosome 1q21: Chromosomal Orientation, New Markers, and a 6-Mb YAC Contig

Marenholz, Ingo; Volz, Armin; Ziegler, Andreas; Davies, Alisha R; Ragoussis, Ioannis; Korge, Bernhard; Mischke, Dietmar

doi:10.1006/geno.1996.0563

Cited by 112 publications

(111 citation statements)

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“…The epidermal differentiation complex (EDC) comprises a remarkable cluster of genes that play an important role in terminal differentiation of the human epidermis (Marenholz et al 1996). This cluster localizes within a 2-Mb region on 1q21.…”

Section: Resultsmentioning

confidence: 99%

Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22

et al. 2003

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Ichthyosis vulgaris (IV) is an inherited scaling skin disorder with a prevalence estimated at 2.29% in China. The gene responsible for this disorder has not been elucidated. To find the disease gene, we ascertained two Chinese IV families. Linkage analysis identified an IV locus on chromosome 1q22 with a maximum twopoint Lod score of 2.47 at D1S1653 (h=0.00). Haplotype analysis placed the critical region in a 7-cM interval defined by D1S1653 and D1S2675. These results provide the basis for further identifying the gene responsible for IV disorder.

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Section: Resultsmentioning

confidence: 99%

Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22

et al. 2003

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“…A specialized protein structure termed the cornified cell envelope (CE) 2 encapsulates the corneocytes of mammalian skin epidermis and hair fiber cuticle. A number of the genes encoding the CE precursor proteins are clustered in the epidermal differentiation complex on human chromosome 1q21 (9) with genes for EF-hand type Ca 2ϩ -binding proteins, including both 16 S100 proteins (2) and more than four larger peptides with an S100-like domain at the N terminus (e.g. profilaggrin and trichohyalin) (10).…”

mentioning

confidence: 99%

Specific Citrullination Causes Assembly of a Globular S100A3 Homotetramer

Kizawa¹,

Takahara

Troxler

et al. 2008

Journal of Biological Chemistry

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S100A3 is a unique member of the Ca 2؉ -binding S100 protein family with the highest cysteine content and affinity for Zn 2؉ . This protein is highly expressed in the differentiating cuticular cells within the hair follicle and organized into mature hair cuticles. Previous studies suggest a close association of S100A3 with epithelial differentiation, leading to hair shaft formation, but its molecular function is still unknown. By two-dimensional PAGE-Western blot analyses using a modified citrulline antibody, we discovered that more than half of the arginine residues of native S100A3 are progressively converted to citrullines by Ca 2؉ -dependent peptidylarginine deiminases. Confocal immunofluorescent microscopy showed that the cytoplasmic S100A3 within the cuticular layer is mostly co-localized with the type III isoform of peptidylarginine deiminase (PAD3) but not with PAD1. Recombinant PAD1 and PAD2 are capable of converting all 4 arginines in recombinant S100A3, whereas PAD3 specifically converts only Arg-51 into citrulline. Gel filtration analyses showed that either enzymatic conversion of Arg-51 in S100A3 to citrulline or its mutational substitution with alanine (R51A) promotes a homotetramer assembly. Fluorescent titration of R51A suggested that its potential Ca 2؉ binding property increased during tetramerization. A prototype structural model of the globular Ca 2؉ -bound S100A3 tetramer with citrulline residues is presented. High concentrations of S100A3 homotetramer might provide the millimolar level of Ca 2؉ required for hair cuticular barrier formation.

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“…In this sense, it is intriguing that hJTB is located in the EDC region. EDC is a region of about 2.2-Mb at 1q21, and contains a large number of genes that are mostly expressed in epidermal cells (Marenholz et al, 1996). These genes can be assorted into two groups depending on the protein structures, namely the S100 gene family (characterized by possessing calcium-binding EF-hand motifs) and the SPRR (small proline-rich region) family.…”

Section: Discussionmentioning

confidence: 99%

“…These STS markers were derived from the CEPH mega-YAC clone, 955_e_11 that had been mapped to 1q21 (Marenholz et al, 1996;Lioumi et al, 1998). Detailed mapping of this YAC clone was previously reported, indicating that it lies within a large genomic region at 1q21 called the epidermal di erentiation complex (EDC).…”

Section: Hjtb Is Localized In Edcmentioning

confidence: 99%

JTB: A novel membrane protein gene at 1q21 rearranged in a jumping translocation

et al. 1999

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1q21 is frequently involved in di erent types of translocation in many types of cancers. Jumping translocation (JT) is an unbalanced translocation that comprises ampli®ed chromosomal segments jumping to various telomeres. In this study, we identi®ed a novel gene human JTB (Jumping Translocation Breakpoint) at 1q21, which fused with the telomeric repeats of acceptor telomeres in a case of JT. hJTB (human JTB) encodes a trans-membrane protein that is highly conserved among divergent eukaryotic species. JT results in a hJTB truncation, which potentially produces an hJTB product devoid of the trans-membrane domain. hJTB is located in a gene-rich region at 1q21, called EDC (Epidermal Di erentiation Complex). This is the ®rst report identifying the gene involved in unbalanced translocations at 1q21.

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Genetic Analysis of the Epidermal Differentiation Complex (EDC) on Human Chromosome 1q21: Chromosomal Orientation, New Markers, and a 6-Mb YAC Contig

Cited by 112 publications

References 2 publications

Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22

Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22

Specific Citrullination Causes Assembly of a Globular S100A3 Homotetramer

JTB: A novel membrane protein gene at 1q21 rearranged in a jumping translocation

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