Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease

Annals of Neurology

Volumn 68, Issue 2, 2010, Pages 250-254

  Osaka, Hitoshi ^a,b   Hamanoue, Haruka ^c   Yamamoto, Ryoko ^d   Nezu, Atsuo ^e   Sasaki, Megumi ^d   Saitsu, Hirotomo ^c   Kurosawa, Kenji ^a   Shimbo, Hiroko ^a   Matsumoto, Naomichi ^c   Inoue, Ken ^d  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b KANAGAWA CANCER CENTER   (Japan)

^c YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e Yokohama Ryoiku iryo Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BINDING SITE; CASE REPORT; DISEASE SEVERITY; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GJC2 GENE; HOMOZYGOSITY; HUMAN; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; PROMOTER REGION; SOX10 GENE; TRANSCRIPTION REGULATION; GENETIC TRANSCRIPTION; GENETICS; METABOLISM; MUTATION; MYELIN SHEATH; PATHOLOGY; PHYSIOLOGY; REGULATORY SEQUENCE;

CONNEXIN 47; GAP JUNCTION PROTEIN; SOX10 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ADULT; CONNEXINS; FEMALE; HUMANS; MUTATION; MYELIN SHEATH; PELIZAEUS-MERZBACHER DISEASE; REGULATORY ELEMENTS, TRANSCRIPTIONAL; SOXE TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 77955299226     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22022     Document Type: Article

References (20)

1. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005;6:1-16. (Pubitemid 40394825)
2. Uhlenberg B, Schuelke M, Ruschendorf F et al. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet. 2004;75:251-260.
3. Bugiani M, Al Shahwan S, Lamantea E et al. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology. 2006;67:273-279. (Pubitemid 44305412)
4. Wolf NI, Cundall M, Rutland P et al. Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. Neurogenetics. 2007;8:39-44. (Pubitemid 44951517)
5. Salviati L, Trevisson E, Baldoin MC et al. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. Neurogenetics. 2007;8:57-60. (Pubitemid 44951520)
6. Henneke M, Combes P, Diekmann S et al. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology. 2008;70:748-754.
7. Orthmann-Murphy JL, Salsano E, Abrams CK et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009;132:426-438.
8. Wang J, Wang H, Wang Y et al. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. Brain Dev. 2009; doi:10.1016/j.braindev.2009.03.013.
9. Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS. Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. Mol Cell Neurosci. 2007;34:629-641.
10. Pingault V, Bondurand N, Kuhlbrodt K et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet. 1998;18:171-173. (Pubitemid 28082467)
11. Nezu A, Kimura S, Uehara S et al. Pelizaeus-Merzbacher-like disease: female case report. Brain Dev. 1996;18:114-118. (Pubitemid 26147533)
12. Inoue K, Khajavi M, Ohyama T et al. Molecular mechanisms for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 2004;36:361-369.
13. Inoue K, Ohyama T, Sakuragi Y et al. Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Hum Mol Genet. 2007;16:3037-3046.
14. Taylor CM, Marta CB, Claycomb RJ et al. Proteomic mapping provides powerful insights into functional myelin biology. Proc Natl Acad Sci U S A. 2004;101:4643-4648.
15. Wang H, Qian WJ, Chin MH et al. Characterization of the mouse brain proteome using global proteomic analysis complemented with cysteinyl-peptide enrichment. J Proteome Res. 2006;5:361-369. (Pubitemid 43222304)
16. Schlierf B, Werner T, Glaser G, Wegner M. Expression of connexin47 in oligodendrocytes in regulated by the Sox10 transcription factor. J Mol Biol. 2006;361:11-21. (Pubitemid 44041452)
17. Orthmann-Murphy JL, Freidin M, Fischer E et al. Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. J Neurosci. 2007;27:13949-13957.
18. Ruf N, Uhlenberg B. Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:226-232.
19. Bondurand N, Girard M, Pingault V et al. Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot- Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet. 2001;10:2783-2795. (Pubitemid 34026460)
20. Houlden H, Girard M, Cockerell C et al. Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol. 2004;56:730-734. (Pubitemid 39540757)