Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

European Journal of Human Genetics

Volumn 20, Issue 9, 2012, Pages 990-994

  Bondurand, Nadége ^a,b   Fouquet, Virginie ^c   Baral, Viviane ^a,b   Lecerf, Laure ^d   Loundon, Natalie ^e   Goossens, Michel ^a,b,f   Duriez, Benedicte ^g   Labrune, Philippe ^h,i   Pingault, Veronique ^a,b,f  

^a INSERM   (France)

^b FACULTÉ DE MÉDECINE   (France)

^c BICÊTRE HOSPITAL   (France)

^d INSERM U955   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f HENRI MONDOR HOSPITAL   (France)

^g INSTITUT JACQUES MONOD   (France)

^h HÔPITAL ANTOINE BÉCLÈRE   (France)

ⁱ UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

alu elements; Hirschsprung; regulatory elements; SOX10; Waardenburg

Indexed keywords

ALU SEQUENCE; ARTICLE; CLINICAL ARTICLE; GENE; GENE DELETION; GENE SEQUENCE; HUMAN; PRIORITY JOURNAL; SOX10 GENE; WAARDENBURG SYNDROME; WAARDENBURG SYNDROME TYPE 4;

ALU ELEMENTS; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 22; ENDOTHELIN-3; ENHANCER ELEMENTS, GENETIC; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NEURAL CREST; RECEPTOR, ENDOTHELIN B; SEQUENCE DELETION; SOXE TRANSCRIPTION FACTORS; WAARDENBURG SYNDROME;

EID: 84865276331     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.29     Document Type: Article

References (21)

1. Amiel J, Sproat-Emison E, Garcia-Barcelo M et al: Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 2008; 45: 1-14. (Pubitemid 351158152)
2. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N: Review and update of mutations causing Waardenburg syndrome. Hum Mutat 2010; 31: 391-406.
3. Inoue K, Khajavi M, Ohyama T et al: Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 2004; 36: 361-369. (Pubitemid 38437258)
4. Amiel J, Benko S, Gordon CT, Lyonnet S: Disruption of long-distance highly conserved noncoding elements in neurocristopathies. Ann NY Acad Sci 2010; 1214: 34-46.
5. Emison ES, McCallion AS, Kashuk CS et al: A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 2005; 434: 857-863. (Pubitemid 40558992)
6. Antonellis A, Bennett WR, Menheniott TR et al: Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. Hum Mol Genet 2006; 15: 259-271. (Pubitemid 43125980)
7. Antonellis A, Huynh JL, Lee-Lin SQ et al: Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet 2008; 4: e1000174.
8. Betancur P, Bronner-Fraser M, Sauka-Spengler T: Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest. Proc Natl Acad Sci USA 2010; 107: 3570-3575.
9. Werner T, Hammer A, Wahlbuhl M, Bosl MR, Wegner M: Multiple conserved regulatory elements with overlapping functions determine Sox10 expression in mouse embryogenesis. Nucleic Acids Res 2007; 35: 6526-6538. (Pubitemid 350111620)
10. Yokota Y, Saito D, Tadokoro R, Takahashi Y: Genomically integrated transgenes are stably and conditionally expressed in neural crest cell-specific lineages. Dev Biol 2011; 353: 382-395.
11. Bondurand N, Dastot-Le Moal F, Stanchina L et al: Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet 2007; 81: 1169-1185. (Pubitemid 350211448)
12. Gu W, Zhang F, Lupski JR: Mechanisms for human genomic rearrangements. Pathogenetics 2008; 1: 4.
13. Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR: The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 2009; 41: 849-853.
14. Kuspert M, Hammer A, Bosl MR, Wegner M: Olig2 regulates Sox10 expression in oligodendrocyte precursors through an evolutionary conserved distal enhancer. Nucleic Acids Res 2011; 39: 1280-1293.
15. Xu J, Xia J: Structure and function of PICK1. Neurosignals 2006; 15: 190-201. (Pubitemid 46895640)
16. Xiao N, Kam C, Shen C et al: PICK1 deficiency causes male infertility in mice by disrupting acrosome formation. J Clin Invest 2009; 119: 802-812.
17. Liu G, Shi QW, Lu GX: A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl 2010; 12: 556-560.
18. Ishiguro H, Koga M, Horiuchi Y et al: PICK1 is not a susceptibility gene for schizophrenia in a Japanese population: association study in a large case-control population. Neurosci Res 2007; 58: 145-148. (Pubitemid 46843323)
19. Deininger PL, Batzer MA: Alu repeats and human disease. Mol Genet Metab 1999; 67: 183-193. (Pubitemid 29390169)
20. Franke G, Bausch B, Hoffmann MM et al: Alu-Alu recombination underlies the vast majority of large VHL germline deletions: molecular characterization and genotypephenotype correlations in VHL patients. Hum Mutat 2009; 30: 776-786.
21. Hasler J, Strub K: Alu elements as regulators of gene expression. Nucleic Acids Res 2006; 34: 5491-5497. (Pubitemid 44742437)