Expression analysis and mutation detection of DLX5 and DLX6 in autism

Brain and Development

Volumn 32, Issue 2, 2010, Pages 98-104

  Nakashima, Naomi ^a   Yamagata, Takanori ^a   Mori, Masato ^a   Kuwajima, Mari ^a   Suwa, Kiyotaka ^a   Momoi, Mariko Y ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

7q; Autism; DLX5; DLX6; Imprinting; MECP2; Mutation; PEG10

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR DLX5; TRANSCRIPTION FACTOR DLX6; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTISM; CHILD; CHROMOSOME 7Q; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION PROFILING; GENOME IMPRINTING; HUMAN; LYMPHOBLAST; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; REAL TIME POLYMERASE CHAIN REACTION;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; AUTISTIC DISORDER; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; SEQUENCE ALIGNMENT; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 73749083678     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.12.021     Document Type: Article

References (22)

1. Bonora E., Bacchelli E., Levy E.R., Blasi F., Marlow A., Monaco A.P., et al. Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Mol Psychiatry 7 (2002) 289-301
2. Okita C., Meguro M., Hoshiya H., Haruta M., Sakamoto Y.K., and Oshimura M. A new imprinted cluster on the human chromosome 7q21-q31, identified by human-mouse monochromosomal hybrids. Genomics 81 (2003) 556-559
3. Morison I.M., Ramsay J.P., and Spencer H.G. A census of mammalian imprinting. Trends Genet 21 (2005) 457-465
4. Guy J., Hendrich B., Holmes M., Martin J.E., and Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27 (2001) 322-326
5. Horike S., Cai S., Miyano M., Cheng J.F., and Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet 37 (2005) 31-40
6. Itaba-Matsumoto N., Maegawa S., Yamagata H., Kondo I., Oshimura M., and Nanba E. Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome. Brain Dev 29 (2007) 491-495
7. Schule B., Li H.H., Fisch-Kohl C., Purmann C., and Francke U. DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. Am J Hum Genet 81 (2007) 492-506
8. Hamilton S.P., Woo J.M., Carlson E.J., Ghanem N., Ekker M., and Rubenstein J.L. Analysis of four DLX homeobox genes in autistic probands. BMC Genet 6 (2005) 52
9. Nabi R., Zhong H., Serajee F.J., and Huq A.H. No association between single nucleotide polymorphisms in DLX6 and Piccolo genes at 7q21-q22 and autism. Am J Med Genet B Neuropsychiatr Genet 119 (2003) 98-101
10. Sullivan P.F., Fan C., and Perou C.M. Evaluating the comparability of gene expression in blood and brain. Am J Med Genet B Neuropsychiatr Genet 141B (2006) 261-268
11. Muhle R., Trentacoste S.V., and Rapin I. The genetics of autism. Pediatrics 113 (2004) e472-e486
12. Samaco R.C., Hogart A., and LaSalle J.M. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 14 (2005) 483-492
13. Rougeulle C., Glatt H., and Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 17 (1997) 14-15
14. Vu T.H., and Hoffman A.R. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17 (1997) 12-13
15. Baron C.A., Tepper C.G., Liu S.Y., Davis R.R., Wang N.J., Schanen N.C., et al. Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes. Hum Mol Genet 15 (2006) 853-869
16. Chang Q., Khare G., Dani V., Nelson S., and Jaenisch R. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 49 (2006) 341-348
17. Nishimura K., Nakamura K., Anitha A., Yamada K., Tsujii M., Iwayama Y., et al. Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism. Biochem Biophys Res Commun 356 (2007) 200-206
18. Pandey G.N., Rizavi H.S., Dwivedi Y., and Pavuluri M.N. Brain-derived neurotrophic factor gene expression in pediatric bipolar disorder: effects of treatment and clinical response. J Am Acad Child Adolesc Psychiatry 47 (2008) 1077-1085
19. Kimura M.I., Kazuki Y., Kashiwagi A., Kai Y., Abe S., Barbieri O., et al. Dlx5, the mouse homologue of the human-imprinted DLX5 gene, is biallelically expressed in the mouse brain. J Hum Genet 49 (2004) 273-277
20. Li H., Yamagata T., Mori M., Yasuhara A., and Momoi M.Y. Mutation analysis of methyl-CpG binding protein family genes in autistic patients. Brain Dev 27 (2005) 321-325
21. Stuhmer T., Anderson S.A., Ekker M., and Rubenstein J.L. Ectopic expression of the Dlx genes induces glutamic acid decarboxylase and Dlx expression. Development 129 (2002) 245-252
22. Perera M., Merlo G.R., Verardo S., Paleari L., Corte G., and Levi G. Defective neuronogenesis in the absence of Dlx5. Mol Cell Neurosci 25 (2004) 153-161