Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region

American Journal of Human Genetics

Volumn 62, Issue 4, 1998, Pages 890-903

  Monk, Sarah ^a   Sakuntabhai, Anavaj ^a   Carter, Simon A ^c   Bryce, Steven D ^c   Cox, Roger ^a   Harrington, Louise ^a   Levy, Elaine ^a   Ruiz Perez, Victor L ^c   Katsantoni, Eleni ^c   Kodvawala, Ahmer ^c   Munro, Colin S ^d   Burge, Susan ^b   Larrègue, Marc ^e   Nagy, Gyula ^f   Rees, Jonathan L ^c   Lathrop, Mark ^a   Monaco, Anthony P ^a   Strachan, Tom ^c   Hovnanian, Alain ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^e POITIERS UNIVERSITY HOSPITAL   (France)

^f Somogy Megyei Kaposi Mór Oktató Kórház Onkoradiológia   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 12P; CLINICAL ARTICLE; DARIER DISEASE; FEMALE; GENE LOCATION; GENE LOCUS; GENETIC LINKAGE; HUMAN; MALE; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; YEAST ARTIFICIAL CHROMOSOME;

BACTERIA (MICROORGANISMS);

EID: 17344369623     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301794     Document Type: Article

References (27)

1. Anand R, Villasante A, Tyler-Smith C (1989) Construction of yeast artificial chromosome libraries with large inserts using fractionation by pulsed field gel electrophoresis. Nucleic Acids Res 17:3425-3433
2. Arveiler B, Porteous DJ (1991) Amplification of end fragments of YAC recombinants by inverse-polymerase chain reaction. Technique 3(1): 24-28
3. Bashir R, Munro CS, Mason S, Stephenson A, Rees JL, Strachan T (1993) Localisation of a gene for Darier's disease. Hum Mol Genet 2:1937-1939
4. Burge S, Garrod DR (1991) An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease. Br J Dermatol 124:242-251
5. Burge S, Wilkinson DJ (1992) Darier-White disease: a review of the clinical features in 163 patients. J Am Acad Dermatol 27:40-50
6. Carter SA, Bryce SD, Munro CS, Healy E, Bashir R, Weissenbach J, Leblanc-Straceski J, et al (1994) Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129. Genomics 24:378-382
7. Craddock N, Dawson E, Burge S, Parfitt L, Mant B, Roberts Q, Daniels J, et al (1993) The gene for Darier's disease maps to chromosome 12q23-q24.1. Hum Mol Genet 2: 1941-1943
8. Craddock N, Owen M, Burge S, Kurian B, Thomas P, McGuffin P (1994) Familial cosegregation of major affective disorder and Darier's disease (keratosis follicularis). Br J Psychiatry 164:355-358
9. Dausset J, Ougen P, Abderrahim H, Billault A, Sambucy JL, Cohen D, Le Paslier D (1992) The CEPH YAC library. Behring Inst Mitt 91:13-20
10. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Milasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
11. Goldsmith LA, Wakem P, Polakowska R, Haake A, Ewing N, Sarret Y, Trattner A, et al (1993) Exclusion of candidate genes in Darier's disease using positional cloning. J Invest Dermatol 101:458
12. Ikeda S, Wakem P, Haake A, Ewing N, Polakowska R, Sarret Y, Trattner A, et al (1994) Localization of the gene for Darier disease to a 5-cM interval on chromosome 12q. J Invest Dermatol 103:478-481
13. Ioannou PA, Amemiya CT, Garnes J, Kroisel PM, Shizuya H, Chen C, Batzer MA, et al (1994) A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat Genet 6:84-89
14. Isozumi K, DeLong R, Kaplan J, Deng H-X, Iqbal Z, Hung W-Y, Wilhelmsen KC, et al (1996) Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Hum Mol Genet 5:1377-1382
15. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, et al (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 8:357-360
16. Liu Y-G, Whittier RF (1995) Thermal asymmetric interlaced PCR: automatable amplification and sequencing of insert end fragments from P1 and YAC clones for chromosome walking. Genomics 25:674-681
17. Mertens C, Kuhn C, Franke WW (1996) Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. J Cell Biol 135:1009-1025
18. Munro CS (1992) The phenotype of Darier's disease: penetrance and expressivity in adults and children. Br J Dermatol 127:126-130
19. Munroe DJ, Haas M, Bric E, Whitton T, Aburatani H, Hunter K, Ward D, et al (1994) IRE-Bubble PCR: a rapid method for efficient and representative amplification of human genomic DNA sequences from complex sources. Genomics 19: 506-514
20. Nechiporuk T, Nechiporuk A, Sahba S, Figueroa K, Shibata H, Chen X-N, Korenberg JR, et al (1997) A high-resolution PAC and BAC map of the SCA2 region. Genomics 44: 321-329
21. Nelson DL, Ledbetter SA, Corbo L, Victoria MF, Ramirez-Solis R, Webster TD, Ledbetter DH, et al (1989) Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci USA 86:6686-6690
22. Parfitt E, Burge S, Craddock N, Roberts E, McLean WHI, Weissenbach J, McGuffin P, et al (1994) The gene for Darier's disease maps between D12S78 and D12S79. Hum Mol Genet 3:35-38
23. Pulst S-M, Nechiporuk A, Nechiporuk T, Gispert S, Chen X-N, Lopes-Cendes I, Pearlman S, et al (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276
24. Renault B, Hovnanian A, Bryce S, Chang J-J, Lau S, Sakuntabhai A, Monk S, et al (1997) A sequence ready physical map of a region of 12q24.1. Genomics 45:271-278
25. Riley J, Butler R, Ogilvie D, Finniear R, Jenner D, Powell S, Anand R, et al (1990) A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucleic Acids Res 18:2887-2890
26. Shizuya H, Birren B, Kim U-J, Mancino V, Slepak T, Tachiiri Y, Simon M (1992) 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
27. Wakem P, Ikeda S, Haake A, Polakowska R, Ewing N, Sarret Y, Duvic M, et al (1996) Localization of the Darier disease gene to a 2-cM portion of 12q23-24.1. J Invest Dermatol 106:365-367