Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping

American Journal of Human Genetics

Volumn 66, Issue 3, 2000, Pages 914-921

  Chavanas, Stéphane ^a   Garner, Chad ^a   Bodemer, Christine ^b   Ali, Mohsin ^c   Hamel Teillac, Dominique ^b   Wilkinson, John ^c   Bonafé, Jean Louis ^d   Paradisi, Mauro ^e   Kelsell, David P ^f   Ansai, Shin Ichi ^h   Mitsuhashi, Yoshihiko ^h   Larrègue, Marc ⁱ   Leigh, Irene M ^f   Harper, John I ^g   Taïeb, Alain ^j   De Prost, Yves ^b   Cardon, Lon R ^a   Hovnanian, Alain ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c AMERSHAM HOSPITAL   (United Kingdom)

^d CHU RANGUEIL   (France)

^e Immacolata Hospital   (Italy)

^f ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h Department of Dermatology ^*  (Japan)

ⁱ POITIERS UNIVERSITY HOSPITAL   (France)

^j HÔPITAL SAINT ANDRÉ   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CASEIN KINASE I; CYCLIC GMP PHOSPHODIESTERASE; CYTOKINE;

ARTICLE; ATOPY; CELL DIFFERENTIATION; CHROMOSOME 5Q; CLINICAL ARTICLE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; EPIDERMIS CELL; EXPRESSED SEQUENCE TAG; FAILURE TO THRIVE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HAIR DISEASE; HOMOZYGOSITY; HUMAN; IMMUNITY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0033911533     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302824     Document Type: Article

References (39)

1. Altman J, Stroud J (1969) Netherton's syndrome and ichthyosis linearis circumflexa. Arch Dermatol 100:500-558
2. Bleecker ER, Amelung PJ, Levitt RC, Postma DS, Meyers DA (1995) Evidence for linkage of total serum IgE and bronchial hyperresponsiveness to chromosome 5q: a major regulatory locus important in asthma. Clin Exp Allergy 25:84-88
3. Broide DH, Hoffman H, Srimarao P (1999) Genes that regulate eosinophilic inflammation. Am J Hum Genet 65:302-307
4. Ceglieska A, Virshup DM (1993) Control of simian virus 40 DNA replication by the HeLa cell nuclear kinase casein kinase I. Mol Cell Biol 13:1202-1211
5. Chruscinski AJ, Rohrer DK, Schauble E, Desai KH, Bernstein D, Kobilka BK (1999) Targeted disruption of the 2 adrenergic receptor gene. J Biol Chem 274:16694-16700
6. Comèl M (1949) Ichthyosis linearis circumflexa. Dermatologica 98:133-136
7. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
8. Cox HE, Moffatt MF, Walley AJ, Coleman R, Trembath RC, Cookson WO, Harper JI (1998) Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor. Br J Dermatol 138:182-187
9. Dib C, Faure 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
10. Frazer KA, Ueda Y, Zhu Y, Gifford VR, Garofalo MR, Mohandas N, Martin CH, et al (1997) Computational and biological analysis of 680 kb of DNA sequence from the human 5q31 cytokine gene cluster region. Genome Res 7: 495-512
11. Gross SD, Simerly C, Schatten G, Anderson RA (1997) A casein kinase I isoform is required for proper cell cycle progression in the fertilized mouse oocyte. J Cell Sci 110: 3083-3090
12. Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, et al (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087
13. Hausser I, Anton-Lamprecht I (1996) Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr Dermatol 13:183-199
14. Hershey GK, Friedrich MF, Thomas ML, Chatila TA (1997) The association of atopy with a gain of function mutation in the alpha subunit of the interleukin-4 receptor. N Engl J Med 337:1720-1725
15. Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP (1995) Autosomal recessive retinis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet 11:468-471
16. Jones SK, Thomasson LM, Surbrugg SK, Weston WL (1986) Neonatal hypernatraemia in two siblings with Netherton's syndrome. Br J Dermatol 114:741-743
17. Judge MR, Morgan G, Harper JI (1994) A clinical and immunological study of Netherton's syndrome. Br J Dermatol 131:615-621
18. Kim I-G, Lee S-C, Lee J-H, Yang J-M, Chung S-I, Steinert PM (1994) Structure and organization of the human transglutaminase 3 gene: evolutionary relationship to the transglutaminase family. J Invest Dermatol 103:137-142
19. Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56:519-527
20. Large V, Hellstrom L, Reynisdottir S, Lonnqvist F, Eriksson P, Lannfelt L, Arner P (1997) Human beta-2 adrenergic receptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoreceptor function. J Clin Invest 100:3005-3013
21. Mansur AH, Bishop DT, Markham AF, Britton J, Morrison JF (1998) Association study of asthma and atopy traits and chromosome 5q cytokine cluster markers. Clin Exp Allergy 28:141-150
22. Marsh DG, Neely JD, Breazale DR, Ghosh B, Freidhoff LR, Ehrlich-Kautzy E, Schou C, et al (1994) Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science 264:1152-1156
23. Meyers DA, Postma DS, Panhuysen CIM, Xu J, Amellung PJ, Levitt RC, Bleeckers ER (1994) Evidence for a locus regulating total serum IgE levels mapping to chromosome 5. Genomics 23:464-470
24. 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
25. Montagutelli X, Hogan M, Aubin G, Lalouette A, Guenet J-L, King LE, Sundberg JP (1996) Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J Invest Dermatol 107:20-25
26. Netherton EW (1958) A unique case of trichorrhexis invaginata "bamboo hair." Arch Dermatol 78:483-487
27. Polymeropoulos MH, Xiao H, Rath DS, Merril CR (1991) Dinucleotide repeat polymorphism at the human interleukin 9 gene. Nucleic Acids Res 19:688
28. Postma DS, Bleecker ER, Amelung PJ, Holroyd KJ, Xu J, Panhuysen CI, Meyers DA, et al (1995) Genetic susceptibility to asthma-bronchial responsiveness coinherited with a major gene for atopy. N Engl J Med 333:894-900
29. Rudikoff D, Lebwohl M (1998) Atopic dermatitis. Lancet 351: 1715-1720
30. Smith DL, Smith JG, Womg SW, de Shazo RD (1995) Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immun 95: 116-123
31. Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing analysis. Am J Hum Genet 58:1323-1337
32. Stevanovic DV (1969) Multiple defects of the hair shaft in Netherton's disease. Br J Dermatol 81:851-857
33. Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, et al (1996) Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet 12:100-102
34. Tobin AB, Totty NF, Sterlin AE, Nahorski SR (1997) Stimulus-dependent phosphorylation of G-protein-coupled receptors by casein kinase Ia. J Biol Chem 272:20844-20849
35. Traupe H (1989) The Comèl-Netherton syndrome. In: The ichthyoses: a guide to clinical diagnosis, genetic counseling, and therapy. Springer-Verlag, Berlin, pp 168-178
36. Treacher Collins Syndrome Collaborative Group, The (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136
37. Turki J, Pak J, Green SA, Martin RJ, Liggett SB (1995) Genetic polymorphisms of the beta-2 adrenergic receptor in nocturnal and non-nocturnal asthma: evidence that gly16 correlates with the nocturnal phenotype. J Clin Invest 95: 1635-1641
38. Weeks DE, Ott J, Lathrop GM (1990) SLINK: a general simulation program for linkage analysis. Am J Hum Genet Suppl 47:A204
39. Yeo JP, Alderuccio F, Toh BH (1994) A new chromosomal protein essential for mitotic spindle assembly. Nature 367: 288-291