A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 726-731

  Hu, Ching Hsuan ^a,b   Liu, Yu Fan ^c   Yu, Ju Shan ^a   Ng, Yan Yan ^a   Chen, Suh Jen ^a   Su, Pen Hua ^a,c   Chen, Jia Yuh ^a,c  

^a CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^c CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Congenital disorders; MID1 gene; Opitz G BBB syndrome; Point mutation

Indexed keywords

GENOMIC DNA; ISOLEUCINE; THREONINE; ZINC FINGER PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BETA SHEET; BINDING AFFINITY; BINDING SITE; BLOOD ANALYSIS; CASE REPORT; CEREBELLUM HYPOPLASIA; CLEFT LIP PALATE; CORPUS CALLOSUM AGENESIS; DNA EXTRACTION; EVOKED BRAIN STEM AUDITORY RESPONSE; EXON; GENE; GENE MUTATION; HUMAN; HYPERTELORISM; HYPOSPADIAS; INFANT; KARYOTYPE 46,XY; MALE; MID1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPITZ SYNDROME; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN STRUCTURE; UPWARD PALPEBRAL SLANT;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOME DISORDERS; ESOPHAGUS; HUMANS; HYPERTELORISM; HYPOSPADIAS; INFANT, NEWBORN; MALE; MICROTUBULE PROTEINS; NUCLEAR PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84862812364     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35216     Document Type: Article

References (28)

1. Aranda-Orgilles B, Trockenbacher A, Winter J, Aigner J, Kohler A, Jastrzebska E, Stahl J, Muller EC, Otto A, Wanker EE, Schneider R, Schweiger S. 2008. The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex. Hum Genet 123: 163- 176.
2. Berti C, Fontanella B, Ferrentino R, Meroni G. 2004. Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules. BMC Cell Biol 5: 9.
3. Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW. 2006. X-linked Opitz G/BBB syndrome: Identification of a novel mutation and prenatal diagnosis in a Korean family. J Korean Med Sci 21: 790- 793.
4. Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK. 2000. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet 9: 2553- 2562.
5. De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G. 2003. X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A 120A: 222- 228.
6. Eswar N, John B, Mirkovic N, Fiser A, Ilyin VA, Pieper U, Stuart AC, Marti-Renom MA, Madhusudhan MS, Yerkovich B, Sali A. 2003. Tools for comparative protein structure modeling and analysis. Nucleic Acids Res 31: 3375- 3380.
7. Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G. 2007. MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: Twenty-nine novel mutations identified. Hum Mutat 28: 206- 207.
8. Fontanella B, Russolillo G, Meroni G. 2008. MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Hum Mutat 29: 584- 594.
9. Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. 1998. Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet 63: 703- 710.
10. Grutter C, Briand C, Capitani G, Mittl PR, Papin S, Tschopp J, Grutter MG. 2006. Structure of the PRYSPRY-domain: Implications for autoinflammatory diseases. FEBS Lett 580: 99- 106.
11. Guex N, Peitsch MC. 1997. SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling. Electrophoresis 18: 2714- 2723.
12. Hsieh EW, Vargervik K, Slavotinek AM. 2008. Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. Am J Med Genet A 146A: 2337- 2345.
13. Kuang Z, Yao S, Xu Y, Lewis RS, Low A, Masters SL, Willson TA, Kolesnik TB, Nicholson SE, Garrett TJ, Norton RS. 2009. SPRY domain-containing SOCS box protein 2: Crystal structure and residues critical for protein binding. J Mol Biol 386: 662- 674.
14. Lancioni A, Pizzo M, Fontanella B, Ferrentino R, Napolitano LM, De Leonibus E, Meroni G. 2010. Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. J Neurosci 30: 2880- 2887.
15. Letunic I, Doerks T, Bork P. 2009. SMART 6: Recent updates and new developments. Nucleic Acids Res 37: D229- D232.
16. Liu J, Prickett TD, Elliott E, Meroni G, Brautigan DL. 2001. Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. Proc Natl Acad Sci USA 98: 6650- 6655.
17. Marchler-Bauer A, Anderson JB, Chitsaz F, Derbyshire MK, DeWeese-Scott C, Fong JH, Geer LY, Geer RC, Gonzales NR, Gwadz M, He S, Hurwitz DI, Jackson JD, Ke Z, Lanczycki CJ, Liebert CA, Liu C, Lu F, Lu S, Marchler GH, Mullokandov M, Song JS, Tasneem A, Thanki N, Yamashita RA, Zhang D, Zhang N, Bryant SH. 2009. CDD: Specific functional annotation with the Conserved Domain Database. Nucleic Acids Res 37: D205- 210.
18. Mnayer L, Khuri S, Merheby HA, Meroni G, Elsas LJ. 2006. A structure-function study of MID1 mutations associated with a mild Opitz phenotype. Mol Genet Metab 87: 198- 203.
19. Park EY, Kwon OB, Jeong BC, Yi JS, Lee CS, Ko YG, Song HK. 2010. Crystal structure of PRY-SPRY domain of human TRIM72. Proteins 78: 790- 795.
20. Pieper U, Eswar N, Braberg H, Madhusudhan MS, Davis FP, Stuart AC, Mirkovic N, Rossi A, Marti-Renom MA, Fiser A, Webb B, Greenblatt D, Huang CC, Ferrin TE, Sali A. 2004. MODBASE, a database of annotated comparative protein structure models, and associated resources. Nucleic Acids Res 32: D217- 222.
21. Pinson L, Auge J, Audollent S, Mattei G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, Attie-Bitach T. 2004. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet 41: 381- 386.
22. Prickett TD, Brautigan DL. 2007. Cytokine activation of p38 mitogen-activated protein kinase and apoptosis is opposed by alpha-4 targeting of protein phosphatase 2A for site-specific dephosphorylation of MEK3. Mol Cell Biol 27: 4217- 4227.
23. Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. 1997. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 17: 285- 291.
24. Robin NH, Opitz JM, Muenke M. 1996. Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet 62: 305- 317.
25. Schweiger S, Foerster J, Lehmann T, Suckow V, Muller YA, Walter G, Davies T, Porter H, van Bokhoven H, Lunt PW, Traub P, Ropers HH. 1999. The Opitz syndrome gene product, MID1, associates with microtubules. Proc Natl Acad Sci USA 96: 2794- 2799.
26. So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. 2005. Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A 132A: 1- 7.
27. Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S. 2001. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet 29: 287- 294.
28. Woo JS, Suh HY, Park SY, Oh BH. 2006. Structural basis for protein recognition by B30.2/SPRY domains. Mol Cell 24: 967- 976.