Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation

Journal of Medical Genetics

Volumn 46, Issue 1, 2009, Pages 49-59

  Elizonod, L I ^a,b   Cho, K S ^c   Zhang, W ^b   Yan, J ^b   Huang, C ^b   Huang, Y ^a   Choi, K ^a   Sloan, E A ^b   Deguchi, K ^b   Lou, S ^b   Baradaran Heravi, A ^a   Takashima, H ^d   Lucke T ^e   Quiocho, F A ^b   Boerkoel, C F ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Konkuk University   (South Korea)

^d KAGOSHIMA UNIVERSITY   (Japan)

^e HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MESSENGER RNA; SWI SNF RELATED MATRIX ASSOCIATED ACTIN DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY A LIKE 1 PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CHROMATIN; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DROSOPHILA MELANOGASTER; ENZYME ACTIVITY; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VIVO STUDY; MISSENSE MUTATION; MUTANT; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STABILITY; SCHIMKE IMMUNOOSSEOUS DYSPLASIA;

DROSOPHILA MELANOGASTER;

EID: 58549084189     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.060095     Document Type: Article

References (32)

1. Ehrich JH, Burchert W, Schirg E, Krull F, Offner G, Hoyer PF, Brodehl J. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol 1995;43:89-95.
2. Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, Gil J, da Fonseca N. Schimke immuno-osseous dysplasia: case report and review of 25 patients. J Med Genet 1999;36:786-9.
3. Schimke RN, Horton WA, King CR. Chondroitin-6-sulphaturia, defective cellular immunity, and nelphrotic syndrome. Lancet 1971;2:1088-9.
4. Sprenger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr 1991;119(1(Pt 1)):64-72.
5. Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Frund S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormala T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000; 159:1-7.
6. da Fonseca MA. Dental findings in the Schimke immuno-osseous dysplasia. Am J Med Genet 2000;93:158-60.
7. Dhillon AS, Chapman S, Milford DV. Cerebellar defect associated with Schimke immuno-osseous dysplasia. Eur J Pediatr 2001; 160:372-4.
8. Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, Andre JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, Frund S, Kaitila I, Lama G, Lamfers P, Lucke T, Milford DV, Najera L, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Stajic N, Stein A, Taha O, Wand D, Armstrong D, Boerkoel CF. Association of migraine-like headaches with Schimke immuno-osseous dysplasia. Am J Med Genet A 2005;135:206-10.
9. Hashimoto K, Takeuchi A, Ieshima A, Takada M, Kasagi M. Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet 1994; 49:266-9.
10. Ieshima A. [Schimke immuno-osseous dysplasia]. Ryoikibetsu Shokogun Shirizu 2000;32:315-7.
11. Lama G, Marrone N, Majorana M, Cirillo F, Salsano ME, Rinaldi MM. Spondyloepiphyseal dysplasia tarda and nelphrotic syndrome in three siblings. Pediatr Nephrol 1995;9:19-23.
12. Schmidt B, Christen HJ, Herkenrath P, Benz-Bohm G, Muller-Berghaus J, Querfeld U. Cerebral complications in Schimke immuno-osseous dysplasia. Eur J Pediatr 1997;156:789-91.
13. Lou S, Lamfers P, McGuire N, Boerkoel CF. Longevity in Schimke immuno-osseous dysplasia. J Med Genet 2002;39:922-5.
14. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Frund S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Mutant chromatin remodeling protein SMARCAL1 causes Schimlke immunoosseous dysplasia. Nat Genet 2002;30:215-20.
15. Coleman MA, Eisen JA, Mohrenweiser HW. Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse. Genomics 2000; 65:274-82.
16. Neigeborn L, Carlson M. Genes affecting the regulation of SUC2 gene expression by glucose repression in Saccharomyces cerevisiae. Genetics 1984;108:845-58.
17. Stern M, Jensen R, Herskowitz I. Five SWI genes are required for expression of the HO gene in yeast. J Mol Biol 1984; 178:853-68.
18. Koonin EV. A common set of conserved motifs in a vast variety of putative nucleic acid-dependent ATPases including MCM proteins involved in the initiation of eukaryotic DNA replication. Nucleic Acids Res 1993;21:2541-7.
19. Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lucke T, Alpay H, Andre JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Frund S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat 2007;28:273-83.
20. Capdevila J, Guerrero I. Targeted expression of the signaling molecule decapentaplegic induces pattern duplications and growth alterations in Drosophila wings. Embo J 1994;13:4459-68.
21. Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, Lucke T, Marwedel KM, Powell RD Jr, Santa Cruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, Kanemura Y, van der Kooy D, Olkano H, Armstrong DL, Boerkoel CF. Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol 2008;67:565-77.
22. Zink D, Paro R. Drosophila Polycomb-group regulated chromatin inhibits the accessibility of a trans-activator to its target DNA. Embo J 1995;14:5660-71.
23. Ashburner M, Golic KG, Hawley RS. Drosophila: a laboratory handbook, 2nd ed. Cold Spring Harbor Laboratory Press, 2004.
24. Gross P, Oelgeschlager T. Core promoter-selective RNA polymerase II transcription. Biochem Soc Symp 2006:225-36.
25. Lange A, Mills RE, Lange CJ, Stewart M, Devine SE, Corbett AH. Classical nuclear localization signals: definition, function, and interaction with importin alpha. J Biol Chem 2007; 282:5101-5.
26. Duffy JB. GAL4 system in Drosophila: a fly geneticist's Swiss army knife. Genesis 2002;34:1-15.
27. Shyu AB, Wilkinson MF, van Hoof A. Messenger RNA regulation: to translate or to degrade. Embo J 2008;27:471-61.
28. Lucke T, Billing H, Sloan EA, Boerkoel CF, Franke D, Zimmering M, Ehrich JH, Das AM. Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. Am J Med Genet A 2005;135:202-5.
29. Bokenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M. R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immunoosseous dysplasia. Pediatr Nephrol 2005; 20:1724-8.
30. Durr H, Korner C, Muller M, Hickmann V, Hopfner KP. X-ray structures of the Suffolobus solfataricus SWI2/SNF2 ATPase core and its complex with DNA. Cell 2005:121:363-73.
31. Theme NH, Czyzewski BK, Alexeev AA, Mazin AV, Kowalczykowski SC, Pavletich NP. Structure of the SWI2/SNF2 chromatin-remodeling domain of eukaryotic Rad54. Nat Struct Mol Biol 2005;12:350-6.
32. Lewis R, Durr H, Hopfner KP, Michaelis J. Conformational changes of a Swi2/Snf2 ATPase during its mechano-chemical cycle. Nucleic Acids Res 2008;36:1881-90.