Segmental copy number loss of SFMBT1 gene in elderly individuals with ventriculomegaly: A community-based study

Internal Medicine

Volumn 50, Issue 4, 2011, Pages 297-303

  Kato, Takeo ^a   Sato, Hidenori ^a,b   Emi, Mitsuru ^a,b   Seino, Tomomi ^a   Arawaka, Shigeki ^a   Iseki, Chifumi ^a   Takahashi, Yoshimi ^a   Wada, Manabu ^a   Kawanami, Toru ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b DNA Chip Research Institute   (Japan)

Author keywords

Avim (asymptomatic ventriculomegaly with features of iNPH on MRI); CNV (copy number variation); NPH (normal pressure hydrocephalus); SFMBT1 (Scm like with four MBT domains protein 1); Ventriculomegaly

Indexed keywords

AVIDIN; BIOTIN; DNA; GENE PRODUCT; OLIGONUCLEOTIDE; PEROXIDASE; SCM LIKE WITH FOUR MBT DOMAIN PROTEIN 1; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BRAIN VENTRICLE DILATATION; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA MICROARRAY; FEMALE; GENE; GENE DOSAGE; GENETIC ANALYSIS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; NORMOTENSIVE HYDROCEPHALUS; NUCLEAR MAGNETIC RESONANCE IMAGING; SFMBT1 GENE;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; HYDROCEPHALUS; HYDROCEPHALUS, NORMAL PRESSURE; IMMUNOHISTOCHEMISTRY; JAPAN; MALE; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REPRESSOR PROTEINS;

EID: 79951621806     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.50.4505     Document Type: Article

References (36)

1. Marmarou A, Young HF, Aygok GA, et al. Diagnosis and management of idiopathic normal-pressure hydrocephalus: A prospective study in 151 patients. J Neurosurg 102: 987-997, 2005.
2. McGirt MJ, Woodworth G, Coon AL, Thomas G, Williams MA, Rigamonti D. Diagnosis, treatment, and analysis of long-term outcomes in idiopathic normal-pressure hydrocephalus. Neurosurgery 57: 699-705, 2005.
3. Gallia GL, Rigamonti D, Williams MA. The diagnosis and treatment of idiopathic normal pressure hydrocephalus. Nat Clin Pract Neurol 2: 375-381, 2006.
4. Kitagaki H, Mori E, Ishii K, Yamaji S, Hirono N, Imamura T. CSF spaces in idiopathic normal pressure hydrocephalus: Morphology and volumetry. AJNR Am J Neuroradiol 19: 1277-1284, 1998.
5. Ishikawa M, Hashimoto M, Kuwana N, et al. Guidelines for management of idiopathic normal pressure hydrocephalus. Neurol Med Chir (Tokyo) 48(Suppl): S1-S23, 2008.
6. Nagasawa H, Wada M, Arawaka S, et al. A polymorphism of the aldehyde dehydrogenase 2 gene is a risk factor for multiple lacunar infarcts in Japanese men: The Takahata Study. Eur J Neurol 14: 428-434, 2007.
7. Wada M, Nagasawa H, Kurita K, et al. Microalbuminuria is a risk factor for cerebral small vessel disease in community-based elderly subjects. J Neurol Sci 255: 27-34, 2007.
8. Wada M, Nagasawa H, Kurita K, et al. Cerebral small vessel disease and C-reactive protein: Results of a cross-sectional study in community-based elderly subjects. J Neurol Sci 264: 43-49, 2008.
9. Wada M, Nagasawa H, Iseki C, et al. Cerebral small vessel disease and chronic kidney disease (CKD): Results of a cross-sectional study in community-based Japanese elderly. J Neurol Sci 272: 36-42, 2008.
10. Iseki C, Kawanami T, Nagasawa H, et al. Asymptomatic ventricu-lomegaly with features of idiopathic normal pressure hydrocepha-lus on MRI (AVIM) in the elderly: A prospective study in a Japanese population. J Neurol Sci 277: 54-57, 2009.
11. Pujari S, Kharkar S, Metellus P, Shuck J, Williams MA, Riga-monti D. Normal pressure hydrocephalus: long-term outcome after shunt surgery. J Neurol Neurosurg Psychiatry 11: 1282-1286, 2008.
12. Meier U, Lemcke J, Al-Zain F. Course of disease in patients with idiopathic normal pressure hydrocephalus (iNPH): a follow-up study 3, 4 and 5 years following shunt implantation. Acta Neuro-chir Suppl 102: 125-127, 2008.
13. Portenoy RK, Berger A, Gross E. Familial occurrence of idi-opathic normal pressure hydrocephalus. Arch Neurol 41: 335-337, 1984.
14. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 444: 444-454, 2006.
15. Hollox EJ, Huffmeier U, Zeeuwen PL, et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 40: 23-25, 2008.
16. Fellermann K, Stange DE, Schaeffeler E, et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 79: 439-448, 2006.
17. Aitman TJ, Dong R, Vyse TJ, et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439: 851-855, 2006.
18. Gonzalez E, Kulkarni H, Bolivar H, et al. The influence of CCL3 L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307: 1434-1440, 2005.
19. de Smith AJ, Tsalenko A, Sampas N, et al. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases. Hum Mol Genet 16: 2783-2794, 2007.
20. Nakayama M, Nozu K, Goto Y, et al. HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pe-diatr Nephrol 25: 1073-1079, 2010.
21. Perry GH, Ben-Dor A, Tsalenko A, et al. The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet 82: 685-695, 2008.
22. Narumi S, Numakura C, Shiihara T, et al. Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleo-tide tiling microarray. Am J Med Genet 152A: 133-140, 2010.
23. Lipson D, Aumann Y, Ben-Dor A, Linial N, Yakhini Z. Efficient calculation of interval scores for DNA copy number data analysis. J Comput Biol 13: 215-228, 2006.
24. Olshen AB, Venkatraman ES, Lucito R, Wigler M. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 5: 557-572, 2004.
25. Stefansson H, Rujescu D, Cichon S, et al. Large recurrent micro deletions associated with schizophrenia. Nature 455: 232-236, 2008.
26. Kato T, Kurita K, Seino T, et al. Galectin-1 is a component of neurofilamentous lesions in sporadic and familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 282: 166-172, 2001.
27. Wang K, Li M, Hadley D, et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 11: 1665-1674, 2007.
28. Cooper GM, Zerr T, Kidd JM, et al. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Gene 10: 1199-1203, 2008.
29. McCarroll SA, Kuruvilla FG, Korn JM, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 10: 1166-1174, 2008.
30. Conrad DF, Pinto D, Redon R, et al. Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712, 2010.
31. Kim JK, Huh SO, Choi H, et al. Srg3, a mouse homolog of yeast SWI3, is essential for early embryogenesis and involved in brain development. Mol Cell Biol 22: 7787-7795, 2001.
32. Wu S, Trievel RC, Rice JC. Human SFMBT is a transcriptional repressor protein that selectively binds the N-terminal tail of his-tone H3. FEBS Lett 581: 3289-3296, 2007.
33. Bonasio R, Lecona E, Reinberg D. MBT domain proteins in development and disease. Semin Cell Dev Biol 21: 221-230, 2010.
34. Usui H, Ichikawa T, Kobayashi K, Kumanishi T. Cloning of a novel murine gene Sfmbt, Scm-related gene containing four mbt domains, structurally belonging to the Polycomb group of genes. Gene 248: 127-135, 2000.
35. Greitz D. Radiological assessment of hydrocephalus: New theories and implications for therapy. Neurosurg Rev 27: 145-165, 2004.
36. Mitsui J, Takahashi Y, Goto J, et al. Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet 87: 75-89, 2010.