Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers

American Journal of Human Genetics

Volumn 61, Issue 2, 1997, Pages 370-378

  Starfield, Michelle ^a   Hennies, Hans Christian ^b   Jung, Martin ^c   Jenkins, Trefor ^a   Wienker, Thomas ^c   Hull, Peter ^a   Spurdle, Amanda ^a   Küster, Wolfgang ^d   Ramsay, Michele ^a   Reis, André ^b,c  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b HUMBOLDT UNIVERSITY   (Germany)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NUCLEOTIDE;

ARTICLE; CHROMOSOME 8P; CONTROLLED STUDY; ERYTHEMA; FEMALE; GENE; GENE LOCATION; GENETIC LINKAGE; GERMANY; HAPLOTYPE; HUMAN; KERATOLYTIC WINTER ERYTHEMA; MAJOR CLINICAL STUDY; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY; SOUTH AFRICA;

SOLEIDAE;

EID: 16944365535     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514848     Document Type: Article

References (34)

1. Aberle H, Bierkamp C, Torchard D, Serova O, Wagner T, Natt E, Wirsching J, et al (1995) The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. Proc Natl Acad Sci USA 92:6384-6388
2. Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS (1991) Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). Genomics 10:640-645
3. Berth-Jones J, Hutchinson PE (1989) A family with palmoplantar epidermolytic hyperkeratosis. Clin Exp Dermatol 14:313-316
4. Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ (1995) Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 10:363-365
5. Buxton RS, Wheeler GN, Pidsley SC, Marsden MD, Adams MJ, Jenkins NA, Gilbert DJ, et al (1994) Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18. Genomics 21:510-516
6. Dean G (1971) The porphyrias. Pitman Medical, London
7. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
8. Epstein EH (1996) The genetics of human skin diseases. Curr Opin Genet Dev 6:295-300
9. Findlay GH, Morrison JG (1978) Erythrokeratolysis hiemalis - keratolytic winter erythema or 'Oudtshoorn skin'. Br J Dermatol 98:491-495
10. Findlay GH, Nurse GT, Heyl T, Hull PR, Jenkins T, Klevansky H, Morrison JG, et al (1977) Keratolytic winter erythema or 'Oudtshoorn skin': a newly recognized inherited dermatosis prevalent in South Africa. S Afr Med J 52:871-874
11. Geurts van Kessel A, Straub RE, Silverman GA, Gerken S, Overhauser J (1994) Report of the Second International Workshop on Human Chromosome 18 Mapping. Cytogenet Cell Genet 65:142-158
12. Hennies HC, Küster W, Mischke D, Reis A (1995) Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. Hum Mol Genet 4:1015-1020
13. Heyl T (1970) Genealogical study of lipoid proteinosis in South Africa. Br J Dermatol 38:338-340
14. Hull PR (1986) Keratolytic winter erythema (Oudtshoorn disease): clinical, genetic and ultrastructural aspects. PhD thesis, University of the Witwatersrand, Johannesburg
15. Ikeda S, Welsh EA, Peluso AM, Leyden W, Duvic M, Woodley DT, Epstein EH (1994) Localisation of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. Hum Mol Genet 3:1147-1150
16. Jenkins T, Nicholls E, Gordon E, Mendelsohn D, Seftel HC, Andrew MJA (1980) Familial hypercholesterolaemia - a common genetic disorder in the Afrikaans population. S Afr Med J 57:943-947
17. Kimonis V, DiGiovanna JJ, Yang J-M, Doyle SZ, Bale SJ, Compton JG (1994) A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol 103:764-769
18. King IA, Arnemann J, Spurr NK, Buxton RS (1993) Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18. Genomics 18:185-194
19. Krahl D, Sigwart A, Hartschuh W, Anton-Lamprecht I, Petzoldt D (1994) Erythrokeratolysis hiemalis: erythematosquamöse Genodermatose mit saisonaler Manifestation [Erythrokeratolysis hiemalis: scaling erythematous dermatosis with seasonal manifestation]. Hautarzt 45:776-779
20. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
21. Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, et al (1996) A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 13:70-77
22. McKusick VA (1994) Mendelian inheritance in man, 11th ed. Johns Hopkins University Press, Baltimore
23. McLean WHI, Lane EB (1995) Intermediate filaments in disease. Curr Opin Cell Biol 7:118-125
24. McLean WHI, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJC, et al (1995) Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 9:273-278
25. Milisavljevic V, Freedberg IM, Blumenberg M (1996) Close linkage of the two keratin gene clusters in the human genome. Genomics 34:134-138
26. Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A (1996) Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol 106:989-992
27. Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, et al (1994) Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 6:174-179
28. Romano V, Bosco P, Raimondi E, Feo S, Leube R, Franke WW, Ceratto N (1991) Chromosomal mapping and physical linkage analysis of human acidic cytokeratin genes. Cytogenet Cell Genet 58:2009-2010
29. Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WHI, et al (1995) Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet 4:1875-1881
30. Spurr NK, Blanton S, Bookstein R, Clarke R, Cottingham R, Daiger S, Drayna D, et al (1995) Report of the Second International Workshop on Human Chromosome 8 Mapping 1994. Cytogenet Cell Genet 68:148-155
31. Thomas JR, Greene SL, Su WP (1984) Epidermolytic palmoplantar keratoderma. Int J Dermatol 23:652-655
32. Volz A, Korge BP, Compton JG, Ziegler A, Steinert PM, Mischke D (1993) Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21. Genomics 18:92-99
33. Wang Y, Amagai M, Minoshima S, Sakai K, Green KJ, Nishikawa T, Shimizu N (1994) The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12. Genomics 20:492-495
34. Yoon S-J, LeBlanc-Straceski J, Ward D, Krauter K, Kucherlapati R (1994) Organization of the human keratin type II gene cluster at 12q13. Genomics 24:502-508