The genetics of human skin diseases

Current Opinion in Genetics and Development

Volumn 6, Issue 3, 1996, Pages 295-300

  Epstein Jr, Ervin H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INTEGRIN; KERATIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

EPIDERMOLYSIS BULLOSA; GENE MUTATION; HUMAN; LAMELLAR ICHTHYOSIS; MOLECULAR GENETICS; PEMPHIGOID; PHENOTYPE; PRIORITY JOURNAL; SHORT SURVEY; SKIN DISEASE;

EID: 0029943389     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(96)80005-0     Document Type: Article

References (42)

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14. Risk JM, Field EA, Field JK, Whittaker J, Fryer A, Ellis A, Shaw JM, Friedmann PS, Bishop DT, Bodmer J, Leigh IM: Tylosis oesophageal cancer mapped. Nat Genet 1994, 8:319-321. See annotation [16•].
15. Hennies HC, Hagedorn M, Reis A: Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster. Genomics 1995, 29:537-540. See annotation [16•].
16. Hennies HC, Kuster W, Mischke D, Reis A: Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. Hum Mol Genet 1995, 4:1015-1020. This work, along with [14•] and [15•], reports the first clear mapping of genes causing hyperkeratosis of the palms and soles to two sites other than the keratin gene clusters. The first is on distal chromosome 17q and was found in two apparently independent Europen kindreds whose phenotype also includes esophageal carcinoma. The second is on chromosome 18q and this localization suggests that this kindred will be the first in which epidermal cadherin gene mutations are found to cause disease.
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18. Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM, Spur NK: Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. Hum Mol Genet 1995, 4:1021-1025. This paper repeats the theme of genetic heterogeneity in the rare hyperkeratoses of the palms and soles, and its implication of mutations in multiple genes further indicates the complexity of stratum corneum homeostasis.
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25. Gruis NA, Van der Velden PA, Lodewijk A, Sandkuijl LA, Prins DE, Weaver-Feldhaus J, Kamb A, Bergman W, Frants RR: Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet 1995, 10:351-353.
26. INK4a mutations are the heritable defects in a large fraction of the kindreds with hereditary melanoma. What is still less certain is the role of acquired mutations in this gene for melanocyte transformation to sporadic melanomas, the general incidence of which continues a seemingly inexorable increase.
27. INK4a- insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. Science 1995, 269:1281-1284. See annotation [28••].
28. INK4a binding domain of CDK4 in familial melanoma. Nat Genet 1996, 12:07-99. This paper and [27••] extend our knowledge of the importance of the p16-CDK4 interaction; melanomas, either hereditary or sporadic, may have a defect in this interaction not only because of mutations in p16 but also because of mutations in the portion of CDK4 to which p16 binds.
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32. Valverde P, Healy E, Jackson I, Rees JL, Thody AJ: Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 1995, 11:328-330.
33. Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J, Stratton MR: Familial cyindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. Nat Genet 1995, 11:441-443. Both this paper and [31•], in addition to being of high scientific quality, feature the most startling clinical photographs of any work published in the genetics field this year and are worth perusing for these alone.
34. Farndon PA, Morris DJ, Hardy C, McConville CM, Weissenbach J, Kilpatrick MW, Reis A: Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3. Genomics 1994, 23:486-489.
35. Peluso AM, Bonifas JM, Ikeda S, Hu Z, Devries S, Waldman F, Badura M, O'Connell P, Damen L, Epstein E et al.: Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region. Genomics 1995, 30:77-80. This report cements the localization of the Hailey-Hailey disease gene to chromosome 3q, both by linkage in additional families and also by identification of a deletion in one kindred - a finding that hopefully will speed the gene identification.
36. Richard G, Wright AR, Harris S, Doyle SZ, Korge B, Mazzanti C, Tanaka T, Harth W, McBride OW, Compton JG et al.: Fine mapping of the Darier's disease locus on chromosome 12q. J Invest Dermatol 1994, 103:665-668.
37. De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB: Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 1996, 12:52-57. This paper confirms that the proximate cause of decreased fatty aldehyde dehydrogenase activity in Sjogren-Larsson syndrome is a mutation in the gene encoding that enzmye.
38. Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D, Morris L, Wuepper KD, Stastny P, Menter A, Bowcock A: Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 1994, 264:1141-1145.
39. 389IL-2) suggests a primary immune, but not keratinocyte, pathogenic basis. Nat Med 1995, 1:442-447. This report provides perhaps the strongest evidence to date favouring the immunological pathogenesis of psoriasis.
40. Carroll JM, Romero MR, Watt FM: Suprabasal integrin expression in the epidermis of transgenic mice results in developmental defects and a phenotype resembling psoriasis. Cell 1995, 83:957-968. One more mouse model that again raises the question of how close to the human disease murine psoriasis might be expected to be. The idea of disease as being caused by the expression a 'normal' protein at an inappropriate site is particularly intriguing.
41. Moss C, Savin J (Eds): Dermatology and the new genetics. London: Blackwell Science Ltd; 1995:1-191. See annotation [42•].
42. Spitz JL (Ed): A full-color clinical guide to genetic skin disorders. Baltimore: Williams & Wilkins; 1996. These two books ([41•,42•]) are excellent representatives of a crop of timely re-presentations of the phenotypes of heritable skin disease. Spitz's book [42•] has a uniform presentation of each disease and is the more accessible; the Moss and Savin book [41•] has more traditional presentations of individual diseases and includes more of the less commonly described entities. Both discuss the molecular advances and are quite up-to-date as of their publication.