Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia

American Journal of Human Genetics

Volumn 96, Issue 4, 2015, Pages 519-531

  Gordon, Christopher T ^a,b   Weaver, K Nicole ^c   Zechi Ceide, Roseli Maria ^d   Madsen, Erik C ^e   Tavares, Andre L P ^f   Oufadem, Myriam ^a,b   Kurihara, Yukiko ^g   Adameyko, Igor ^h   Picard, Arnaud ⁱ   Breton, Sylvain ^j   Pierrot, Sébastien ^j   Biosse Duplan, Martin ^a,b,k   Voisin, Norine ^a,b   Masson, Cécile ^a,b   Bole Feysot, Christine ^a,b   Nitschké, Patrick ^a,b   Delrue, Marie Ange ^l   Lacombe, Didier ^l   Guion Almeida, Maria Leine ^d   Moura, Priscila Padilha ^d   Garib, Daniela Gamba ^d   Munnich, Arnold ^a,b,j   Ernfors, Patrik ^h   Hufnagel, Robert B ^c   Hopkin, Robert J ^c   Kurihara, Hiroki ^g   Saal, Howard M ^c   Weaver, David D ^m   Katsanis, Nicholas ^e   Lyonnet, Stanislas ^a,b,j   Golzio, Christelle ^e   Clouthier, David E ^f   Amiel, Jeanne ^a,b,j   more..

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f UNIVERSITY OF COLORADO   (United States)

^g UNIVERSITY OF TOKYO   (Japan)

^h KAROLINSKA INSTITUTE   (Sweden)

ⁱ SORBONNE UNIVERSITÉ   (France)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k CHU BRETONNEAU   (France)

^l BORDEAUX UNIVERSITY HOSPITAL   (France)

^m INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 1; ENDOTHELIN 3; N (2,6 DIMETHYLPIPERIDINOCARBONYL) 4 METHYLLEUCYL DEXTRO (1 METHOXYCARBONYLTRYPTOPHANYL) DEXTRO NORLEUCINE; ENDOTHELIN A RECEPTOR; MESSENGER RNA; MORPHOLINO OLIGONUCLEOTIDE;

ADOLESCENT; ALOPECIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CLEFT PALATE; CONDUCTION DEAFNESS; CONTROLLED STUDY; CROWDING (TOOTH); EMBRYO; ENDOTHELIN RECEPTOR TYPE A GENE; GENE; GENE EXPRESSION; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MICROGNATHIA; MISSENSE MUTATION; MOSAICISM; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; TEMPOROMANDIBULAR ANKYLOSIS; TRACHEOSTOMY; UPPER RESPIRATORY TRACT OBSTRUCTION; ZEBRA FISH; ANIMAL; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; EXOME; GENETICS; IN SITU HYBRIDIZATION; METABOLISM; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE; REAL TIME POLYMERASE CHAIN REACTION; SYNDROME; ZYGOMA;

MUS; VERTEBRATA;

ALOPECIA; ANIMALS; BASE SEQUENCE; ENDOTHELIN-1; EXOME; HUMANS; IN SITU HYBRIDIZATION; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR SEQUENCE DATA; MORPHOLINOS; MUTATION, MISSENSE; PEDIGREE; REAL-TIME POLYMERASE CHAIN REACTION; RECEPTOR, ENDOTHELIN A; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; ZEBRAFISH; ZYGOMA;

EID: 84926254728     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.01.015     Document Type: Article

References (45)

1. N. Le Douarin, and C. Kalcheim The Neural Crest 1999 Cambridge University Press Cambridge
2. I. Braasch, and M. Schartl Evolution of endothelin receptors in vertebrates Gen. Comp. Endocrinol. 209 2014 21 34
3. D.E. Clouthier, M.R. Passos-Bueno, A.L.P. Tavares, S. Lyonnet, J. Amiel, and C.T. Gordon Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies Am. J. Med. Genet. C. Semin. Med. Genet. 163C 2013 306 317
4. S.R. Krystek Jr., P.S. Patel, P.M. Rose, S.M. Fisher, B.K. Kienzle, D.A. Lach, E.C. Liu, J.S. Lynch, J. Novotny, and M.L. Webb Mutation of peptide binding site in transmembrane region of a G protein-coupled receptor accounts for endothelin receptor subtype selectivity J. Biol. Chem. 269 1994 12383 12386
5. J.A. Lee, J.D. Elliott, J.A. Sutiphong, W.J. Friesen, E.H. Ohlstein, J.M. Stadel, J.G. Gleason, and C.E. Peishoff Tyr-129 is important to the peptide ligand affinity and selectivity of human endothelin type A receptor Proc. Natl. Acad. Sci. USA 91 1994 7164 7168
6. D.E. Clouthier, K. Hosoda, J.A. Richardson, S.C. Williams, H. Yanagisawa, T. Kuwaki, M. Kumada, R.E. Hammer, and M. Yanagisawa Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice Development 125 1998 813 824
7. T. Sato, Y. Kurihara, R. Asai, Y. Kawamura, K. Tonami, Y. Uchijima, E. Heude, M. Ekker, G. Levi, and H. Kurihara An endothelin-1 switch specifies maxillomandibular identity Proc. Natl. Acad. Sci. USA 105 2008 18806 18811
8. C.T. Gordon, F. Petit, P.M. Kroisel, L. Jakobsen, R.M. Zechi-Ceide, M. Oufadem, C. Bole-Feysot, S. Pruvost, C. Masson, and F. Tores Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears Am. J. Hum. Genet. 93 2013 1118 1125
9. M.J. Rieder, G.E. Green, S.S. Park, B.D. Stamper, C.T. Gordon, J.M. Johnson, C.M. Cunniff, J.D. Smith, S.B. Emery, and S. Lyonnet A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome Am. J. Hum. Genet. 90 2012 907 914
10. D. Wieczorek Human facial dysostoses Clin. Genet. 83 2013 499 510
11. M.A. DePristo, E. Banks, R. Poplin, K.V. Garimella, J.R. Maguire, C. Hartl, A.A. Philippakis, G. del Angel, M.A. Rivas, and M. Hanna A framework for variation discovery and genotyping using next-generation DNA sequencing data Nat. Genet. 43 2011 491 498
12. H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
13. M. Westerfield The Zebrafish Book. A Guide for the Laboratory Use of Zebrafish (Danio rerio) 1995 University of Oregon Press Eugene
14. Y. Javidan, and T.F. Schilling Development of cartilage and bone Methods Cell Biol. 76 2004 415 436
15. S. Nair, W. Li, R. Cornell, and T.F. Schilling Requirements for Endothelin type-A receptors and Endothelin-1 signaling in the facial ectoderm for the patterning of skeletogenic neural crest cells in zebrafish Development 134 2007 335 345
16. A.R. Niederriter, E.E. Davis, C. Golzio, E.C. Oh, I.-C. Tsai, and N. Katsanis In vivo modeling of the morbid human genome using Danio rerio J. Vis. Exp. 78 2013 e50338
17. T. Sato, Y. Kawamura, R. Asai, T. Amano, Y. Uchijima, D.A. Dettlaff-Swiercz, S. Offermanns, Y. Kurihara, and H. Kurihara Recombinase-mediated cassette exchange reveals the selective use of Gq/G11-dependent and -independent endothelin 1/endothelin type A receptor signaling in pharyngeal arch development Development 135 2008 755 765
18. L.J. Cushman, W. Torres-Martinez, and D.D. Weaver Johnson-McMillin syndrome: report of a new case with novel features Birth Defects Res. A Clin. Mol. Teratol. 73 2005 638 641
19. R.M. Zechi-Ceide, M.L. Guion-Almeida, F.S. Jehee, K. Rocha, and M.R. Passos-Bueno Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? Am. J. Med. Genet. A. 152A 2010 1838 1840
20. M.P. Schön, A. Arya, E.A. Murphy, C.M. Adams, U.G. Strauch, W.W. Agace, J. Marsal, J.P. Donohue, H. Her, and D.R. Beier Mucosal T lymphocyte numbers are selectively reduced in integrin alpha E (CD103)-deficient mice J. Immunol. 162 1999 6641 6649
21. B. Liu, and D. Wu The first inner loop of endothelin receptor type B is necessary for specific coupling to Galpha 13 J. Biol. Chem. 278 2003 2384 2387
22. V. Breu, K. Hashido, C. Broger, C. Miyamoto, Y. Furuichi, A. Hayes, B. Kalina, B.M. Löffler, H. Ramuz, and M. Clozel Separable binding sites for the natural agonist endothelin-1 and the non-peptide antagonist bosentan on human endothelin-A receptors Eur. J. Biochem. 231 1995 266 270
23. M. Brand, J.M. Le Moullec, P. Corvol, and J.M. Gasc Ontogeny of endothelins-1 and -3, their receptors, and endothelin converting enzyme-1 in the early human embryo J. Clin. Invest. 101 1998 549 559
24. V. Nataf, A. Amemiya, M. Yanagisawa, and N.M. Le Douarin The expression pattern of endothelin 3 in the avian embryo Mech. Dev. 73 1998 217 220
25. E.W. Brunskill, A.S. Potter, A. Distasio, P. Dexheimer, A. Plassard, B.J. Aronow, and S.S. Potter A gene expression atlas of early craniofacial development Dev. Biol. 391 2014 133 146
26. C.T. Miller, T.F. Schilling, K. Lee, J. Parker, and C.B. Kimmel sucker encodes a zebrafish Endothelin-1 required for ventral pharyngeal arch development Development 127 2000 3815 3828
27. H. Morimoto, H. Shimadzu, E. Kushiyama, H. Kawanishi, T. Hosaka, Y. Kawase, K. Yasuda, K. Kikkawa, R. Yamauchi-Kohno, and K. Yamada Potent and selective ET-A antagonists. 1. Syntheses and structure-activity relationships of N-(6-(2-(aryloxy)ethoxy)-4-pyrimidinyl)sulfonamide derivatives J. Med. Chem. 44 2001 3355 3368
28. Y. Kurihara, H. Kurihara, H. Suzuki, T. Kodama, K. Maemura, R. Nagai, H. Oda, T. Kuwaki, W.H. Cao, and N. Kamada Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1 Nature 368 1994 703 710
29. K. Maemura, H. Kurihara, Y. Kurihara, H. Oda, T. Ishikawa, N.G. Copeland, D.J. Gilbert, N.A. Jenkins, and Y. Yazaki Sequence analysis, chromosomal location, and developmental expression of the mouse preproendothelin-1 gene Genomics 31 1996 177 184
30. C.T. Gordon, C.M. Cunniff, G.E. Green, R.M. Zechi-Ceide, J.M. Johnson, A. Henderson, F. Petit, N.M. Kokitsu-Nakata, M.L. Guion-Almeida, and A. Munnich Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome Am. J. Med. Genet. A. 164A 2014 1850 1853
31. C.B. Kimmel, M.B. Walker, and C.T. Miller Morphing the hyomandibular skeleton in development and evolution J. Exp. Zoolog. B Mol. Dev. Evol. 308 2007 609 624
32. C.T. Gordon, A. Vuillot, S. Marlin, E. Gerkes, A. Henderson, A. AlKindy, M. Holder-Espinasse, S.S. Park, A. Omarjee, and M. Sanchis-Borja Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome J. Med. Genet. 50 2013 174 186
33. V.L. Romanelli Tavares, C.T. Gordon, R.M. Zechi-Ceide, N.M. Kokitsu-Nakata, N. Voisin, T.Y. Tan, A.A. Heggie, S. Vendramini-Pittoli, E.J. Propst, and B.C. Papsin Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect Eur. J. Hum. Genet. 2014 10.1038/ejhg.2014.132
34. L.B. Ruest, X. Xiang, K.C. Lim, G. Levi, and D.E. Clouthier Endothelin-A receptor-dependent and -independent signaling pathways in establishing mandibular identity Development 131 2004 4413 4423
35. M.L. Webb, P.S. Patel, P.M. Rose, E.C. Liu, P.D. Stein, J. Barrish, D.A. Lach, T. Stouch, S.M. Fisher, and O. Hadjilambris Mutational analysis of the endothelin type A receptor (ETA): interactions and model of selective ETA antagonist BMS-182874 with putative ETA receptor binding cavity Biochemistry 35 1996 2548 2556
36. C.Y. Chang, H.A. Pasolli, E.G. Giannopoulou, G. Guasch, R.M. Gronostajski, O. Elemento, and E. Fuchs NFIB is a governor of epithelial-melanocyte stem cell behaviour in a shared niche Nature 495 2013 98 102
37. M. Ohyama, T. Kobayashi, T. Sasaki, A. Shimizu, and M. Amagai Restoration of the intrinsic properties of human dermal papilla in vitro J. Cell Sci. 125 2012 4114 4125
38. J. Hwang, T. Mehrani, S.E. Millar, and M.I. Morasso Dlx3 is a crucial regulator of hair follicle differentiation and cycling Development 135 2008 3149 3159
39. V.P. Johnson, J.M. McMillin, T. Aceto Jr., and G. Bruins A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism Am. J. Med. Genet. 15 1983 497 506
40. K. Johnston, M. Golabi, B. Hall, M. Ito, and A. Grix Alopecia-anosmia-deafness-hypogonadism syndrome revisited: report of a new case Am. J. Med. Genet. 26 1987 925 927
41. R.C. Hennekam, and F.J. Holtus Johnson-McMillin syndrome: report of another family Am. J. Med. Genet. 47 1993 714 716
42. D.N. Schweitzer, S. Yano, D.L. Earl, and J.M. Graham Jr. Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case Am. J. Med. Genet. A. 120A 2003 400 405
43. F. De Metsenaere, G. Mortier, and M. Dhont Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome Am. J. Obstet. Gynecol. 191 2004 1728 1729
44. R. Cerny, M. Cattell, T. Sauka-Spengler, M. Bronner-Fraser, F. Yu, and D.M. Medeiros Evidence for the prepattern/cooption model of vertebrate jaw evolution Proc. Natl. Acad. Sci. USA 107 2010 17262 17267
45. S. Kuraku, Y. Takio, F. Sugahara, M. Takechi, and S. Kuratani Evolution of oropharyngeal patterning mechanisms involving Dlx and endothelins in vertebrates Dev. Biol. 341 2010 315 323