Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: Identification of 14 novel mutations in Italian patients

Genetic Testing

Volumn 12, Issue 3, 2008, Pages 437-442

  Conte, Chiara ^a   Gambardella, Stefano ^b   Bulli, Cristina ^a   Rinaldi, Fabrizio ^b   Di Marino, Daniele ^b   Falconi, Mattia ^b   Bramanti, Placido ^c   Desideri, Alessandro ^b   Novelli, Giuseppe ^a,b  

^a TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c IRCCS CENTRO NEUROLESI BONINO PULEJO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ECTODYSPLASIN A;

ARTICLE; BINDING AFFINITY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EDA1 GENE; GENE; GENE DELETION; GENE MUTATION; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; ITALY; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS;

ALTERNATIVE SPLICING; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CODON, NONSENSE; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ECTODYSPLASINS; GENE DELETION; GENETIC SCREENING; HUMANS; HYDROGEN BONDING; HYDROPHOBICITY; ITALY; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; STATIC ELECTRICITY;

EID: 50649083926     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0020     Document Type: Article

References (24)

1. Baker NA, Sept D, Joseph S, et al. (2001) Electrostatics of nanosystems: application to microtubules and the ribosome. Proc Natl Acad Sci USA 98:10037-10041.
2. Bayes M, Hartung AJ, Ezer S, et al. (1998) The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 7:1661-1669.
3. Chen Y, Molloy SS, Thomas L, et al. (2001) Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc Natl Acad Sci USA 98:7218-7223.
4. Copley RR (1999) The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain. J Mol Med 77:361-363.
5. DeLano WL (2002) The PyMOL Molecular Graphics System. DeLano Scientific, San Carlos, CA.
6. den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
7. Elomaa O, Pulkkinen K, Hannelius U, et al. (2001) Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum Mol Genet 10:953-962.
8. Ezer S, Bayes M, Elomaa O, et al. (1999) Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet 8:2079-2086.
9. Gross E, Arnold N, Goette J, et al. (1999) A comparison of BRCA1 mutation analysis by direct sequencing, SSCP, and DHPLC. Hum Genet 195:72-78.
10. Hymowitz SG, Compaan DM, Yan M, et al. (2003) The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity. Structure 11:1513-1520.
11. Kere J, Grzeschik KH, Limon J, et al. (1993) Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes. Genomics 16:305-310.
12. Kere J, Srivastava AK, Montonen O, et al. (1996) X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416.
13. Kimchi-Sarfaty C, Oh JM, Kim IW (2007) A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 315:525-528.
14. Mikkola ML, Pispa J, Pekkanen M, et al. (1999) Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion. Mech Dev 88:133-146.
15. Monreal AW, Zonana J, Ferguson B (1998) Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 63:380-389.
16. O'Donovan MC, Oefner PJ, Roberts SC (1998) Blind analysis of denaturing high performance liquid chromatography as a tool for mutation detection. Genomics 52:44-49.
17. Paakkonen K, Cambiaghi S, Novelli G, et al. (2001) The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum Mutat 17:349-353.
18. Pettersen EF, Goddard TD, Huang CC, et al. (2004) UCSF Chimera - a visualization system for exploratory research and analysis. J Comput Chem 25:1605-1612.
19. Pinheiro M, Freire-Maia N (1994) Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 53:153-162.
20. Ponder JW, Case DA (2003) Force fields for protein simulations. Adv Protein Chem 66:27-85.
21. Sayle RA, Milner-White EJ (1995) RasMol: biomolecular graphics for all. Trends Biochem Sci 20:374-376.
22. Schneider P, Street SL, Gaide O, et al. (2001) Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Biol Chem 276:18819-18827.
23. Srivastava AK, Montonen O, Saarialho-Kere U, et al. (1996) Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. Am J Hum Genet 58:126-132.
24. Yan M, Wang LC, Hymowitz SG, et al. (2000) Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 290:523-527.