Literature DB >> 8938441

Genetic analysis of the epidermal differentiation complex (EDC) on human chromosome 1q21: chromosomal orientation, new markers, and a 6-Mb YAC contig.

I Marenholz1, A Volz, A Ziegler, A Davies, I Ragoussis, B P Korge, D Mischke.   

Abstract

The epidermal differentiation complex (EDC) unites a remarkable number of structurally, functionally, and evolutionarily related genes that play an important role in terminal differentiation of the human epidermis. It is localized within 2.05 Mb of region q21 on human chromosome 1. We have identified and characterized 24 yeast artificial chromosome (YAC) clones by mapping individual EDC genes, sequence-tagged site (STS) markers (D1S305, D1S442, D1S498, D1S1664), and 10 new region-specific probes (D1S3619-D1S3628). Here we present a contig that covers about 6 Mb of 1q21 including the entire EDC. Fluorescence in situ hybridization on metaphase chromosomes with two YACs flanking the EDC determined its chromosomal orientation and established, in conjunction with physical mapping results, the following order of genes and STSs: 1cen-D1S442-D1S498-S100A10-THH-FLG- D1S1664-IVL-SPRR3-SPRR1-SPRR2-LOR- S100A9-S100A8-S100A7-S100A6-S100A5-S100 A4- S100A3-S100A2-S100A1-D1S305-1qtel. These integrated physical, cytogenetic, and genetic mapping data will be useful for linkage analyses of diseases associated with region 1q21 and for the identification of novel genes and regulatory elements in the EDC.

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Year:  1996        PMID: 8938441     DOI: 10.1006/geno.1996.0563

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  25 in total

1.  S100A4 over-expression underlies lymph node metastasis and poor prognosis in colorectal cancer.

Authors:  Li-Yong Huang; Ye Xu; Guo-Xiang Cai; Zu-Qing Guan; Wei-Qi Sheng; Hong-Fen Lu; Li-Qi Xie; Hao-Jie Lu; San-Jun Cai
Journal:  World J Gastroenterol       Date:  2011-01-07       Impact factor: 5.742

2.  Genetic variation in small proline rich protein 2B as a predictor for asthma among children with eczema.

Authors:  Tolly G Epstein; Grace K LeMasters; David I Bernstein; Mark B Ericksen; Lisa J Martin; Patrick H Ryan; Jocelyn M Biagini Myers; Melinda S Butsch Kovacic; Mark A Lindsey; Hua He; Tiina Reponen; Manuel S Villareal; James E Lockey; Cheryl K Bernstein; Gurjit K Khurana Hershey
Journal:  Ann Allergy Asthma Immunol       Date:  2012-03       Impact factor: 6.347

3.  Identification of human epidermal differentiation complex (EDC)-encoded genes by subtractive hybridization of entire YACs to a gridded keratinocyte cDNA library.

Authors:  I Marenholz; M Zirra; D F Fischer; C Backendorf; A Ziegler; D Mischke
Journal:  Genome Res       Date:  2001-03       Impact factor: 9.043

4.  Coordinate interaction between IL-13 and epithelial differentiation cluster genes in eosinophilic esophagitis.

Authors:  Carine Blanchard; Emily M Stucke; Karen Burwinkel; Julie M Caldwell; Margaret H Collins; Annette Ahrens; Bridget K Buckmeier; Sean C Jameson; Allison Greenberg; Ajay Kaul; James P Franciosi; Jonathan P Kushner; Lisa J Martin; Philip E Putnam; J Pablo Abonia; Suzanne I Wells; Marc E Rothenberg
Journal:  J Immunol       Date:  2010-03-05       Impact factor: 5.422

5.  Bleomycin hydrolase is regulated biphasically in a differentiation- and cytokine-dependent manner: relevance to atopic dermatitis.

Authors:  Yayoi Kamata; Mami Yamamoto; Fumitaka Kawakami; Ryoji Tsuboi; Atsushi Takeda; Kazuhiko Ishihara; Toshihiko Hibino
Journal:  J Biol Chem       Date:  2010-12-29       Impact factor: 5.157

6.  Characterization of Sp1, AP-1, CBF and KRC binding sites and minisatellite DNA as functional elements of the metastasis-associated mts1/S100A4 gene intronic enhancer.

Authors:  M A Cohn; I Hjelmsø; L C Wu; P Guldberg; E M Lukanidin; E M Tulchinsky
Journal:  Nucleic Acids Res       Date:  2001-08-15       Impact factor: 16.971

7.  Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 (LELP1) gene with total serum IgE levels.

Authors:  Mamta Sharma; Kamiya Mehla; Jyotsna Batra; Balaram Ghosh
Journal:  J Hum Genet       Date:  2007-02-15       Impact factor: 3.172

8.  Gene expression profiling in pachyonychia congenita skin.

Authors:  Yu-An Cao; Robyn P Hickerson; Brandon L Seegmiller; Dmitry Grapov; Maren M Gross; Marc R Bessette; Brett S Phinney; Manuel A Flores; Tycho J Speaker; Annaleen Vermeulen; Albert A Bravo; Anna L Bruckner; Leonard M Milstone; Mary E Schwartz; Robert H Rice; Roger L Kaspar
Journal:  J Dermatol Sci       Date:  2015-01-14       Impact factor: 4.563

9.  Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22.

Authors:  Wei Zhong; Bin Cui; Yizhi Zhang; Haisong Jiang; Shengcai Wei; Lei Bu; Guoping Zhao; Landian Hu; Xiangyin Kong
Journal:  J Hum Genet       Date:  2003-06-28       Impact factor: 3.172

10.  Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.

Authors:  Anastasia Petrova; Antonio Capalbo; Laureen Jacquet; Simon Hazelwood-Smith; Dimitra Dafou; Carl Hobbs; Matthew Arno; Alessio Farcomeni; Liani Devito; Heba Badraiq; Michael Simpson; John A McGrath; Wei-Li Di; Jeffrey B Cheng; Theodora M Mauro; Dusko Ilic
Journal:  Stem Cells Dev       Date:  2016-08-30       Impact factor: 3.272

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