Human epidermal differentiation complex in a single 2.5 Mbp long continuum of overlapping DNA cloned in bacteria integrating physical and transcript maps

Journal of Investigative Dermatology

Volumn 112, Issue 6, 1999, Pages 910-918

  South, Andrew P ^c   Cabral, Adriana ^d   Ives, Jane H ^c   James, Colin H ^c   Mirza, Ghazala ^a   Marenholz, Ingo ^b   Mischke, Dietmar ^b   Backendorf, Claude ^d   Ragoussis, Jiannis ^a   Nizetic, Dean ^c  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b HUMBOLDT UNIVERSITY   (Germany)

^c UNIVERSITY OF LONDON   (United Kingdom)

^d NONE

Author keywords

1q21; Cornified envelope gene complex; Sequence ready map

Indexed keywords

CALCIUM BINDING PROTEIN; DNA; PROTEIN S 100;

ARTICLE; BACTERIUM; CELL DIFFERENTIATION; CHROMOSOME 1Q; COSMID; ENVELOPE GENE; HUMAN; HUMAN CELL; KERATINOCYTE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTRICTION MAPPING; SEQUENCE TAGGED SITE; SIGNAL TRANSDUCTION;

EID: 0007727976     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00613.x     Document Type: Article

References (41)

1. Baxendale S, Bates GP, MacDonald ME, Gusella JF, Lehrach H: The direct screening of cosmid libraries with YAC clones. Nucleic Acids Res 19:6651, 1991
2. Cheng JF, Boyartchuk V, Zhu Y: Isolation and mapping of human chromosome 21 cDNA. Progress in constructing a chromosome 21 expression map. Genomics 23:75-85, 1994
3. Dale BA, Resing KA, Presland RB. Keratohyalin granule proteins. In: Leigh I, Land B, Watt F (eds). The Keratinocyte Handbook, Cambridge: Cambridge University Press, 1994, pp 323-350
4. Dillon N, Grosveld F: Transcriptional regulation of multigene loci: multilevel control. Trends Genet 9:134-137, 1993
5. Eckert R, Green H: Structure and evolution of the human involucrin gene. Cell 46:583-589, 1986
6. Englekamp D, Schaler BW, Mattei MG, Erne P, Heizmann CW: Six S100 genes are clustered on human chromosome 1q21: identification of two genes coding for the two previously unreported calcium binding proteins S100D and S100E. Proc Natl Acad Sci USA 90:6547-6551, 1993
7. Fischer DF, Gibbs S, van de Putte P, Backendorf C: Interdependent transcription control elements regulate the expression of the SPRR2A gene during keratinocyte terminal differentiation. Mol Cell Biol 16:5365-5374, 1996
8. Forus A, Berner JM, MezaZepeda LA, Saeter G, Mischke D, Fodstad O: Molecular characterisation of a novel amplicon at 1q21-q22 frequently observed in human sarcomas. Br J Cancer 78:495-503, 1998
9. Gelb BD, Spencer E, Obad S, Edelson GJ, Faure S, Weissenbach J, Desnick RJ: Pycnodysostosis: Refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes. Hum Genet 98:141-144, 1996
10. Gibbs S, Fijnemann R, van Wiegant J, Kessel AG, van de Putte P, Backendorf C: Molecular characterisation and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. Genomics 16:630-637, 1993
11. Groet J, Ives JH, South AP, et al: Bacterial contig map of the 21q11 region associated with Alzheimer's disease and abnormal myclopoiesis in Down syndrome. Genome Res 8:385-398, 1998
12. Hardas BD, Zhao X, Zhang J, Longqing X, Stoll S, Elder JT: Assignment of psoriasin to human chromosomal band 1q21: coordinate overexpression of clustered genes in psoriasis. J Invest Dermatol 106:753-758, 1996
13. Ioannou AP, Amemiya J, Garnes J, et al: A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet 6:84-89, 1994
14. Ivens AC, Little PFR. Cosmid clones and their application to genome studies. In: Glover DM, Harnes BD (eds). DNA Cloning 3 A Practical Approach. Oxford: IRL Press, 1995, pp 1-46
15. Kim SY, Horrigan SK, Altenhofen JL, Arbieva ZH, Hoffman R, Westbrook CA: Modification of bacterial artificial chromosome clones using Cre recombinase: introduction of selectable markers for expression in eukaryotic cells. Genome Res 8:404-412, 1998
16. Korge BP, Ishida-Yamamoto A, Punter C, et al: Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol 109:604-610, 1997
17. Lioumi M, Olavesen MG, Nizetic D, Ragoussis J: High-resolution YAC fragmentation map of 1q21. Genomics 409:200-208, 1998
18. Maestrini E, Monaco AP, McGrath JA, et al: A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nature Genet 13:70-77, 1996
19. Marenholz I, Volz A, Ziegler A, Davies A, Ragoussis I, Korge BP, Mischke D: Genetic analysis of the epidermal differentiation complex (EDC) on human chromosome 1q21: chromosomal orientation, new markers, and a 6-Mb YAC contig. Genomics 37:295-302, 1996
20. Markova NG, Marekov LN, O'Keefe EJ, Parry DAD, Steinert PM: Profilaggrin is a major epidermal calcium binding protein. Mol Cell Biol 13:613-625, 1993
21. Mejia JE, Monaco AP: Retrofitting vectors for E. coli-based artificial chromosomes (PACs and BACs) with markers for transfection studies. Genome Res 7:179-186, 1997
22. Milner CM, Campbell RD: Genes, genes and more genes in the major histocompatibility complex. Bioessays 14:565-571, 1992
23. Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A: Genes encoding structural proteins of the epidermal cornification and S100 calcium-binding proteins form a gene complex ('epidermal differentiation complex') on human chromosome 1q21. J Invest Dermatol 106:989-992, 1996
24. Nizetic D, Lehrach H: Chromosome specific cosmid libraries: construction, handling and use in parallel and integrated mapping. In: Glover DM, Harnes BD (eds). DNA Cloning 3. A Practical Approach, Oxford: IRL Press, 1995, pp 49-79
25. Nizetic D, Monard S, Cotter F, Young BD, Lehrach H: Construction of cosmid libraries from flow sorted material of human chromosomes 1, 6, 7, 11, 13 and 18 for use as reference libraries. Mamm Genet 5:801-802, 1994
26. O'Kefee EJ, Hamilton EH, Lee SC, Steinert P: Trichohyalin - A Structural protein of hair, tongue, nail, and epidermis. J Invest Dermatol 101:65s-71s, 1993
27. Polymeropoulos MH, De Ortiz Luna RI, Ide SE, Torres R, Rubenstein J, Francomano CA: The gene for pycnodysostosis maps to human chromosome 1cen-1q21. Nature Genet 10:238-239s, 1995
28. Presland RB, Bassuk JA, Kimball JR, Dale BA: Characterization of two distinct calcium-binding sites in the amino-terminus of human profilaggrin. J Invest Dermatol 104:218-223, 1995
29. Resing KA, Dale BA. Proteins of keratohyalin. In: Goldsmith LA (ed.). Physiology, Biochemistry and Molecular Biology of the Skin. New York: Oxford University Press, 1991, pp 148-167
30. Schaefer BW, Heizmann CW: The S100 family of EF-hand calcium-binding proteins: Functions and pathology. Trends Biochem Sci 21:134-140, 1996
31. Schaefer BW, Wicki R, Englekamp D, Mattei MG, Heizmann CW: Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: rationale for a new nomenclature of the S100 calcium-binding protein family. Genomics 25:638-643, 1995
32. Shizuya H, Birren BI, Kim U.J, Mancino B, Slepak T, Tachiiri Y, Simon MI: Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. Proc Natl Acad Sci USA 89:8794-8797, 1992
33. Steinert PM, Roop DR: Molecular and cellular biology of intermediate filaments. Annu Rev Biochem 57:593-625, 1988
34. Townes TM, Behringer RR: Human globin locus activation region (LAR): Role in temporal control. Trends Genet 6:219-229, 1990
35. Volz A, Korge BP, Compton JG, Zeigler A, Steinert PM, Mischke D: Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21. Genomics 18:92-99, 1993
36. Weterman MAJ, Wilbrink M, Dijkhuizen T, van den Berg E, van Kessel AG: Fine mapping of the 1q21 breakpoint of the papillary venal cell carcinoma-associated (X; 1) translocation. Hum Genet 98:16-21, 1993
37. Wicki R, Schaefer BW, Erne P, Heizmann CW: Characterization of the human and mouse cDNAs coding for S100A13, a new member of the S100 protein family. Biochem Biophys Res Commun 227:594-599, 1996a
38. Wicki R, Marenholz I, Mischke D, Schaefer BW, Heizmann CW: Characterization of the human S100A12 (calgranulin C, p6, CAAF1, CGRP) gene, a new member of the S100 gene cluster on chromosome 1q21. Cell Calcium 20:459-464, 1996b
39. Williams ML, Elias PM: From basket weaver to barrier - unifying concepts for the pathogenesis of the disorders of cornification. Arch Dermatol 192:626-629, 1993
40. Yuspa SH, Kilkenny AE, Steinet PM, Roop DR: Expression of murine epidermal differentiation markers is tightly regulated by restricted extracellular calcium concentrations in vitro. J Cell Biol 109:1207-1217, 1989
41. Zhao XP, Elder JT: Positional cloning of novel skin-specific genes from the human epidermal differentiation complex. Genomics 45:250-258, 1997