Skin Diseases Mutation Database

DNA-BASED PRENATAL DIAGNOSIS OF RDEB

VOL. 104, N O . 4 APRIL 1995

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ysis bullosa. In: Epidennolysis Bnllosa: Basic and Clinical Aspects. Lin AN, Carter DM (eds.). Spriiigler-Verlag, New York, 1992, pp 235-251 Holbrook KA, Smith LT, Elias S: Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch Dermatol 129:1437-1454, 1993 Parente MG, Chung LC, Ryyniinen J, Woodley DT, Wynn KC, Bauer EA, Mattei M-G, Chu M-L, Uitto J: Human type VII collagen: cDNA cloning ,ind chromosomal mapping ofthe gene. Proc Nail ACMI Sci USA 88:6931-6935, 1991 Christiano AM, Rosenbaum LM, Chung-Honet LC, Parente MG, Woodley DT, Pan T-C, Zhang RZ, Chu M-L, Burgeson RE, Uitto J: The large noncollagenous domain (NC-1) of type VII collagen is amino-terniinal and chimeric. Homology to cartilage matrix protein, the type 111 domains of fibronectin and the A domains of von Willebrand factor. Hnin Mol Cenel 1:475-481, 1992 Gammon W R , Abemethy ML, P,idilla KM, Prisayanh PS, C:ook ME, Wright J, Briggaman RA, Hunt SWl: Noncollagenous (NCI) domain of collagen VII resenihles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix. J Invest Dermatol 99:691-696, 1992 Greenspan DS: The carhoxy-terniinal half of type VII collagen, including the non-collagenous NC~2 domain and iiitron/exon organization of the corresponding region ofthe COL7AI gene. Hum Mol Ceiiet 2:273-278, 1993 Christiano AM, Hoffman GG, Chuug-Honet LC, Lee S, Wen C, Uitto J, Greenspan DS: Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previou.sly characterized gene. Ceiiomics 21:169-179, 1994 Christiano AM, Chung-Honet LC, Hovnanian A, Uitto J: PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21,l. Ceiiomics 14:827-828, 1992

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Christiano AM, Greenspan DS, Lee S, Uitto J: Cloning of human type VII collagen. Complete primary sequence ofthe a l (VII) chain and identification ofintr,igenicpol>TOorphisms.J'Bi()i Chem 269:20256-20262, 1994 Christiano AM, Uitto J: DNA-based prenatal diagnosis of heritable skin diseases. Areh Dernwiol 129:1455-1459, t993 John SWM, Weitzner G, Rozen R , Scriver CR: A rapid procedure for extracting genomic DNA from leukocytes. Nucteic Acids Res 19:408, 1991 Ganly PS, Rahbitts PH: Polymerase chain reaction (PCR) for detection of Mspl polymorphism at the D3S2 locus. Nucleic Acid Res 19:3761, 1991 Sheffield VC, Cox DR, Lernian LS, Myers KM: Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 86:232-236, 1989 Lerman LS, Silverstoin K: Computational simulation of DNA melting and its application to denaturing gradient gel electrophore.iiis. In: Methods in Eiizyimloxy. Wu R (ed.). Academic Press, N e w York, 1987, pp 482-501 Myers RM, Maniati.s T, Leniian LS: Detection and localization of single base changes hy denaturing gradient gel electrophoresis. In: Methods iu Eu::yinoloiiy. Wu R (eds.). Academic Press, N e w York, 1987, pp 501-527 Gyllensten UB, Erlich HA: Generation of single-strand DNA by the polymerase chain reaction and its application to direct sequencing ofthe HLA-DQA locus. Proc Natl Acad Sci USA 85:7652-7656, 1988 Lathrop MG, Lalouel JM: Easy calctihitions of lod scores ,ind genetic risks on small computers. .4m / Hntn Genet 3r>:460—465, 1984 Terwilliger JD, Ott J: Haiidlionk of Human Genetic Liukiige. Johns Hopkins University Press, Baltimore, 1994, pp 307

SKIN DISEASES MUTATION DATABASE The Joimtctl of hu'cstificttivc Dcrmatolofiy has taken the initiative to develop a computerized database for skin diseases mutations. Tentatively, this service will be available through Internet during the early part of 1995, The individuals listed below have agreed to serve as coordinators ofthe respective area of heritable skin diseases. We would encourage researchers working in the areas indicated to contact coordinators to obtain forms for data submission. The information required brief description of the clinical features, methods used to verify the diagnosis, description of the mutation (tbe gene, nucleotide changes, consequence of the nuitation), and possibly a reference to publication describing the mutation. These forms should be submitted to the coordinating investigators for verification of the completeness and accuracy of the data. The first version of the database will be published in one of the forthcoming issues of the Journal. W e hope that tbis service will facilitate elucidation of heritable disorders affecting the skin. Organizing Committee: Ervin H. Epstein, Jr,, Lowell A, Goldsmith, and Jouni Uitto

Data Coordinators on Clinical Areas Covered by the Skin Diseases Mutation Database Diseases/Mutated Gene-Protein Systems

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Data Coordinator (Fax)

1, Dystropliie EU/COL7A1

Angela M, Christinno (215-955-5 788)

2, EB Simplex, EHK, Ielithyoses, Keratinization Disorders/Keratins, Transglutaniinases

John Compton (301-402-2886)

3, Jtinetional EB/Laminin 5, a6/34 Integrin, B1'AG2

Guerrino Menegiizzi (33-93-81-14-04)

4, Heritable Conneetive Tisstie Disorders (EDS, CL, 1'XE)/COL1A1, ELN, FBN-1 & 2, ete,

Heather YeowcU (919-684-3002)

5, Pigmentation Disordcts/Tytosinase, eKit, ete.

Riehard Spritz (608-262-2976)