Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene

Human Genetics

Volumn 132, Issue 12, 2013, Pages 1383-1393

  Leoyklang, Petcharat ^a,b,c   Suphapeetiporn, Kanya ^a,b   Srichomthong, Chalurmpon ^a,b   Tongkobpetch, Siraprapa ^a,b   Fietze, Stefanie ^d   Dorward, Heidi ^c   Cullinane, Andrew R ^c   Gahl, William A ^c   Huizing, Marjan ^c   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d MAX PLANCK INSTITUTE OF IMMUNOBIOLOGY AND EPIGENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SMALL INTERFERING RNA;

ANIMAL TISSUE; ARTICLE; BINDING AFFINITY; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; EMBRYO; GENE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE INTERACTION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; LEUKOCYTE; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEUS ACCUMBENS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; PROTEIN LOCALIZATION; SPECIAL AT RICH SEQUENCE BINDING 2 GENE; UPF3 REGULATOR OF NONSENSE TRANSCRIPTS HOMOLOG B GENE;

ANIMALS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COGNITION DISORDERS; COS CELLS; CRANIOFACIAL ABNORMALITIES; HEK293 CELLS; HUMANS; MATRIX ATTACHMENT REGION BINDING PROTEINS; MICE; MICE, KNOCKOUT; PHENOTYPE; PROMOTER REGIONS, GENETIC; RNA-BINDING PROTEINS; SYNDROME; TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION;

MUS;

EID: 84889246079     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1345-9     Document Type: Article

References (36)

1. Addington AM, Gauthier J, Piton A, Hamdan FF, Raymond A, Gogtay N, Miller R, Tossell J, Bakalar J, Germain G, Gochman P, Long R, Rapoport JL, Rouleau GA (2011) A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. Mol Psychiatry 16:238-239
2. Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y (2008) The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat 29:992-1006
3. Apostolova G, Loy B, Dorn R, Dechant G (2010) The sympathetic neurotransmitter switch depends on the nuclear matrix protein Satb2. J Neurosci 30:16356-16364
4. Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA (2008) Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet 82:927-936
5. Brewer CM, Leek JP, Green AJ, Holloway S, Bonthron DT, Markham AF, FitzPatrick DR (1999) A locus for isolated cleft palate, located on human chromosome 2q32. Am J Hum Genet 65:387-396
6. Buchwald G, Ebert J, Basquin C, Sauliere J, Jayachandran U, Bono F, Le Hir H, Conti E (2010) Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex. Proc Natl Acad Sci USA 107:10050-10055
7. Chung J, Lau J, Cheng LS, Grant RI, Robinson F, Ketela T, Reis PP, Roche O, Kamel-Reid S, Moffat J, Ohh M, Perez-Ordonez B, Kaplan DR, Irwin MS (2010) SATB2 augments DeltaNp63alpha in head and neck squamous cell carcinoma. EMBO Rep 11:777-783
8. Dobreva G, Dambacher J, Grosschedl R (2003) SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. Genes Dev 17:3048-3061
9. Dobreva G, Chahrour M, Dautzenberg M, Chirivella L, Kanzler B, Farinas I, Karsenty G, Grosschedl R (2006) SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. Cell 125:971-986
10. Eberhard J, Gaber A, Wangefjord S et al (2012) A cohort study of the prognostic and treatment predictive value of SATB2 expression in colorectal cancer. Br J Cancer 106:931-938
11. Ellies DL, Krumlauf R (2006) Bone formation: the nuclear matrix reloaded. Cell 125:840-842
12. FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT (2003) Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet 12:2491-2501
13. Gehring NH, Neu-Yilik G, Schell T, Hentze MW, Kulozik AE (2003) Y14 and hUpf3b form an NMD-activating complex. Mol Cell 1:939-949
14. Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A (2008) Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet 17:1877-1889
15. Kadlec J, Izaurralde E, Cusack S (2004) The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. Nat Struct Mol Biol 11:330-337
16. Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschutter A, Braulke T, Schulz A (2011) Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease. Mol Med 17:1253-1261
17. Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V (2007) Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat 28:732-738
18. Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25(4):402-408
19. Lykke-Andersen J, Shu MD, Steitz JA (2000) Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell 103:1121-1131
20. Macara IG (2001) Transport into and out of the nucleus. Microbiol Mol Biol Rev 65:570-594
21. Magnusson K, de Wit M, Brennan DJ et al (2011) Satb2 in combination with cytokeratin 20 identifies over 95 % of all colorectal carcinomas. Am J Surg Pathol 35:937-948
22. Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y (2006) Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38:294-296
23. Rauch A, Wieczorek D, Graf E et al (2012) Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380(9854):1674-1682
24. Ropers HH, Hamel BC (2005) X-linked mental retardation. Nat Rev Genet 6:46-57
25. Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, Torchia BA, Shaffer LG (2009) Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS ONE 4:e6568
26. Savarese F, Davila A, Nechanitzky R, De La Rosa-Velazquez I, Pereira CF, Engelke R, Takahashi K, Jenuwein T, Kohwi-Shigematsu T, Fisher AG, Grosschedl R (2009) Satb1 and Satb2 regulate embryonic stem cell differentiation and Nanog expression. Genes Dev 23:2625-2638
27. Schlenstedt G (1996) Protein import into the nucleus. FEBS Lett 389:75-79
28. Serin G, Gersappe A, Black JD, Aronoff R, Maquat LE (2001) Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). Mol Cell Biol 21:209-223
29. Srinivasan K, Leone DP, Bateson RK, Dobreva G, Kohwi Y, Kohwi-Shigematsu T, Grosschedl R, McConnell SK (2012) A network of genetic repression and derepression specifies projection fates in the developing neocortex. Proc Natl Acad Sci USA 109:19071-19078
30. Steidl S, Tuncher A, Goda H, Guder C, Papadopoulou N, Kobayashi T, Tsukagoshi N, Kato M, Brakhage AA (2004) A single subunit of a heterotrimeric CCAAT-binding complex carries a nuclear localization signal: piggy back transport of the pre-assembled complex to the nucleus. J Mol Biol 342:515-524
31. Tarpey PS, Raymond FL, Nguyen LS et al (2007) Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet 39:1127-1133
32. Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E (2009) Toriello-Carey syndrome in a patient with a de novo balanced translocation [46, XY, t(2;14)(q33;q22)] interrupting SATB2. Clin Genet 75:259-264
33. To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H (2011) ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood 118:1443-1451
34. Urquhart J, Black GC, Clayton-Smith J (2009) 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet 52:454-457
35. Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR (2005) The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet 48:276-289
36. van Driel MA, Bruggeman J, Vriend G, Brunner HG, Leunissen JA (2006) A text-mining analysis of the human phenome. Eur J Hum Genet 14:535-542