Molecular aspects of hypohidrotic ectodermal dysplasia

American Journal of Medical Genetics, Part A

Volumn 149, Issue 9, 2009, Pages 2031-2036

  Mikkola, Marja L ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Ectodysplasin; Edar; Edaradd; Hair; Morphogenesis; NF B; Tooth

Indexed keywords

ECTODYSPLASIN A; EDAR ASSOCIATED DEATH DOMAIN PROTEIN; EDAR RECEPTOR; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

EXPERIMENTAL MOUSE; GENETIC CONSERVATION; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; LOSS OF FUNCTION MUTATION; MORPHOGENESIS; NONHUMAN; ORGANOGENESIS; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; DISEASE MODELS, ANIMAL; ECTODERMAL DYSPLASIA; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE; ECTODYSPLASINS; EDAR RECEPTOR; EDAR-ASSOCIATED DEATH DOMAIN PROTEIN; GENE EXPRESSION REGULATION; HUMANS; HYPOHIDROSIS; MICE; MUTATION; NF-KAPPA B;

EID: 69249148706     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32855     Document Type: Review

References (66)

1. Andl T, Reddy ST, Gaddapara T, Millar SE. 2002. WNT signals are required for the initiation of hair follicle development. Dev Cell 2:643-653. (Pubitemid 34538144)
2. Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A. .2007. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat 28:703-709. (Pubitemid 47047297)
3. Bryk J, Hardouin E, Pugach I, Hughes D, Strotmann R, Stoneking M, Myles S. 2008. Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation. PLoS ONE 3:e2209.
4. Casal ML, Lewis JR, Mauldin EA, Tardivel A, Ingold K, Favre M, Paradies F, Demotz S, Gaide O, Schneider P. 2007. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet 81:1050-1056. (Pubitemid 47580256)
5. Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC. 2006. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 27:255-259.
6. Courtois G, Smahi A. 2006. NF-kappaB-related genetic diseases. Cell Death Differ 13:843-851.
7. Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israël A, Munnich A, Le Deist F, Casanova JL. 2003. A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 112:1108-1115. (Pubitemid 38056325)
8. Cui CY, Schlessinger D. 2006. EDA signaling and skin appendage development. Cell Cycle 5:2477-2483. (Pubitemid 44785825)
9. Cui CY, Durmowicz M, Tanaka TS, Hartung AJ, Tezuka T, Hashimoto K, Ko MS, Srivastava AK, Schlessinger D. 2002. EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice. Hum Mol Genet 11:1763-1773. (Pubitemid 34812097)
10. Cui CY, Durmowicz M, Ottolenghi C, Hashimoto T, Griggs B, Srivastava AK, Schlessinger D. 2003. Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles. Hum Mol Genet 12:2931-2940. (Pubitemid 37442021)
11. Cui CY, Hashimoto T, Grivennikov SI, Piao Y, Nedospasov SA, Schles-singer D. 2006. Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Proc Natl Acad Sci USA 103:9142-9147. (Pubitemid 43902546)
12. Cui CY, Kunisada M, Esibizione D, Douglass EG, Schlessinger D. 2009. Analysis of the temporal requirement for Eda in hair and sweat gland development. J Invest Dermatol 129:984-993.
13. Dickson KM, Bhakar AL, Barker PA. 2004. TRAF6-dependent NF-κB transcriptional activity during mouse development. Dev Dyn 231: 122-127. (Pubitemid 39095202)
14. Dry FW. 1926. The coat of the mouse (Mus musculus). J Genet 16:287-340.
15. Fessing MY, Sharova TY, Sharov AA, Atoyan R, Botchkarev VA. 2006. Involvement of the Edar signaling in the control of hair follicle involution (catagen). Am J Pathol 169:2075-2084. (Pubitemid 351181967)
16. Fliniaux I, Mikkola ML, Lefebvre S, Thesleff I. 2008. Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes. Dev Biol 320:60-71.
17. Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L, Mustofa MS, Samakkarn U, Settheetham-Ishida W, Ishida T, Morishita Y, Furusawa T, Nakazawa M, Ohtsuka R, Tokunaga K. 2008. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet 17:835-843. (Pubitemid 351359700)
18. Gugasyan R, Voss A, Varigos G, Thomas T, Grumont RJ, Kaur P, Grigoriadis G, Gerondakis S. 2004. The transcription factors c-rel and RelA control epidermal development and homeostasis in embryonic and adult skin via distinct mechanisms. Mol Cell Biol 24:5733-5745. (Pubitemid 38787959)
19. Hammerschmidt B, Schlake T. 2007. Localization of Shh expression by Wnt and Eda affects axial polarity and shape of hairs. Dev Biol 305:246-261. (Pubitemid 46589419)
20. Headon DJ, Overbeek PA. 1999. Involvement of a novel Tnf receptor homologue in hair follicle induction. Nat Genet 22:370-374.
21. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA. 2001. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414:913-916. (Pubitemid 34024742)
22. Irvine AD. 2005. Ectodermal dysplasias. In: Harper J, Oranje A, Prose NS, editors. Textbook of pediatric dermatology. Oxford, England: Wiley-Blackwell. pp 1412-1466.
23. Itin PH, Fistarol SK. 2004. Ectodermal dysplasias. Am J Med Genet Part C 131C:45-51.
24. Jiang TX, Widelitz RB, Shen WM, Will P, Wu DY, Lin CM, Jung HS, Chuong CM. 2004. Integument pattern formation involves genetic and epigenetic controls: Feather arrays simulated by digital hormone models. Int J Dev Biol 48:117-135. (Pubitemid 38807926)
25. Kangas AT, Evans AR, Thesleff I, Jernvall J. 2004. Nonindependence of mammalian dental characters. Nature 432:211-214.
26. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho- Kere U, de la Chapelle A, Schlessinger D. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416. (Pubitemid 26256613)
27. Lamatine J. 2003. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 28:351-355.
28. Laurikkala J, Mikkola M, Mustonen T, Aberg T, Koppinen P, Pispa J, Nieminen P, Galceran J, Grosschedl R, Thesleff I. 2001. TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis. Dev Biol 229:443-455. (Pubitemid 32108704)
29. Li S, Li J, Cheng J, Zhou B, Tong X, Dong X, Wang Z, Hu Q, Chen M, Hua ZC. 2008. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A). PLoS ONE 3:e2396.
30. Mann SJ. 1962. Prenatal formation of hair follicle types. Anat Rec 144: 135-141.
31. Mikkola ML. 2007. Genetic basis of skin appendage development. Semin Cell Dev Biol 8:225-236.
32. Mikkola ML. 2008. TNF superfamily in skin appendage development. Cytokine Growth Factor Rev 19:219-230.
33. Mikkola ML, Millar SE. 2006. The mammary bud as a skin appendage: Unique and shared aspects of development. J Mammary Gland Biol Neoplasia 11:187-203.
34. Mikkola ML, Thesleff I. 2003. Ectodysplasin signalling in development. Cytokine Growth Factor Rev 4:211-224.
35. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. 1999. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 22:366-369. (Pubitemid 29369528)
36. Morlon A, Munnich A, Smahi A. 2005. TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd. Hum Mol Genet 14:3751-3757. (Pubitemid 41754673)
37. Mou C, Jackson B, Schneider P, Overbeek PA, Headon DJ. 2006. Generation of the primary hair follicle pattern. Proc Natl Acad Sci USA 103: 9075-9080. (Pubitemid 43902535)
38. Mou C, Thomason HA, Willan PM, Clowes C, Harris WE, Drew CF, Dixon J, Dixon MJ, Headon DJ. 2008. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. Hum Mutat 29:1405-1411. (Pubitemid 352774894)
39. Mustonen T, Pispa J, Mikkola ML, Pummila M, Kangas AT, Pakkasjärvi L, Jaatinen R, Thesleff I. 2003. Stimulation of ectodermal organ development by Ectodysplasin-A1. Dev Biol 259:123-136. (Pubitemid 36703148)
40. Mustonen T, Ilmonen M, Pummila M, Kangas AT, Laurikkala J, Jaatinen R, Pispa J, Gaide O, Schneider P, Thesleff I, Mikkola ML. 2004. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 131:4907-4919. (Pubitemid 39485349)
41. Naito A, Yoshida H, Nishioka E, Satoh M, Azuma S, Yamamoto T, Nishikawa S, Inoue J. 2002. TRAF6-deficient mice display hypohidrotic ectodermal dysplasia. Proc Natl Acad Sci USA 99:8766-8771. (Pubitemid 34693634)
42. Nieminen P. 2009. Genetic basis of tooth agenesis. J Exp Zool B Mol Dev Evol. DOI: 10.1002/jez.b.21277.
43. Pantalacci S, Chaumot A, Benoît G, Sadier A, Delsuc F, Douzery EJ, Laudet V. 2008. Conserved features and evolutionary shifts of the EDA signaling pathway involved in vertebrate skin appendage development. Mol Biol Evol 25:912-928.
44. Perkins ND. 2007. Integrating cell-signalling pathways with NF-kappaB and IKK function. Nat Rev Mol Cell Biol 8:49-62.
45. Pispa J, Jung HS, Jernvall J, Kettunen P, Mustonen T, Tabata MJ, Kere J, Thesleff I. 1999. Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF. Dev Biol 216:521-534. (Pubitemid 30013302)
46. Pispa J, Mustonen T, Mikkola ML, Kangas AT, Koppinen P, Lukinmaa PL, Jernvall J, Thesleff I. 2004. Tooth patterning and enamel formation can be manipulated by misexpression of TNF receptor Edar. Dev Dyn 231:432-440. (Pubitemid 39238070)
47. Pispa J, Pummila M, Barker P, Thesleff I, Mikkola ML. 2008. Edar and Troy signalling pathways act redundantly to regulate initiation of hair follicle development. Hum Mol Genet 17:3380-3391.
48. Priolo M, Laganà C. 2001. Ectodermal dysplasias: A new clinical-genetic classification. J Med Genet 38:579-585. (Pubitemid 32835619)
49. Pummila M, Fliniaux I, Jaatinen R, James MJ, Laurikkala J, Schneider P, Thesleff I, Mikkola ML. 2007. Ectodysplasin has a dual role in ectodermal organogenesis: Inhibition of Bmp activity and induction of Shh expression. Development 134:117-125. (Pubitemid 46152712)
50. Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES; International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu R, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanakk T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarrolI S, Patterson N, Pe'er L, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J. 2007. Genome-wide detection and characterization of positive selection in human populations. Nature 449:913-918.
51. Schlake T. 2007. Determination of hair structure and shape. Semin Cell Dev Biol 18:267-273.
52. Schmidt-Ullrich R, Aebischer T, Hulsken J, Birchmeier W, Klemm U, Scheidereit C. 2001. Requirement of NF-kB/Rel for the development of hair follicles and other epidermal appendices. Development 128: 3843-3853. (Pubitemid 32998932)
53. Schmidt-Ullrich R, Tobin DJ, Lenhard D, Schneider P, Paus R, Scheidereit C. 2006. NF-κB transmits Eda A1/EdaR signalling to activate Shh and cyclin D1 expression, and controls post-initiation hair placode down growth. Development 133:1045-1057.
54. Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J. 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. (Pubitemid 37411199)
55. Sick S, Reinker S, Timmer J, Schlake T. 2006. WNT and DKK determine hair follicle spacing through a reaction-diffusion mechanism. Science 314:1447-1450. (Pubitemid 44871949)
56. Srivastava AK, Pispa J, Hartung AJ, Du Y, Ezer S, Jenks T, Shimada T, Pekkanen M, Mikkola ML, Ko MS, Thesleff I, Kere J, Schlessinger D. 1997. The Tabby phenotype is caused by mutation in amouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci USA 94:13069-13074. (Pubitemid 27518477)
57. Sundberg JP. 1994. Handbook of mouse mutations with skin and hair abnormalities. Boca Raton, FL: CRC Press LLC. pp 445-462.
58. Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, Liu L, Xu J, Li T, Yan Y, He L. 2006. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J Hum Genet 51:498-502. (Pubitemid 43863790)
59. Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI. 2007. A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet Part A 143A:390-394. (Pubitemid 46214206)
60. Thesleff I, Keränen S, Jernvall J. 2001. Enamel knots as signaling centers linking tooth morphogenesis and odontoblast differentiation. Adv Dent Res 15:14-18.
61. Tucker AS, Headon DJ, Schneider P, Ferguson BM, Overbeek P, Tschopp J, Sharpe PT. 2000. Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis. Development 127:4691-4700. (Pubitemid 30952828)
62. Tucker AS, Headon DJ, Courtney JM, Overbeek P, Sharpe PT. 2004. The activation level of the TNF family receptor, Edar, determines cusp number and tooth number during tooth development. Dev Biol 268: 185-194. (Pubitemid 38367860)
63. Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM. 2000. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 290:523-527. (Pubitemid 30808945)
64. Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM. 2002. Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice. Curr Biol 12:409-413. (Pubitemid 34209289)
65. Zhang M, Brancaccio A, Weiner L, Missero C, Brissette JL. 2003. Ectodysplasin regulates pattern formation in the mammalian hair coat. Genesis 37:30-37. (Pubitemid 37255224)
66. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. 2000. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 67:1555-1562.