FOXP2 Targets Show Evidence of Positive Selection in European Populations
Tài liệu tham khảo
Sabeti, 2006, Positive natural selection in the human lineage, Science, 312, 1614, 10.1126/science.1124309
Akey, 2009, Constructing genomic maps of positive selection in humans: where do we go from here?, Genome Res., 19, 711, 10.1101/gr.086652.108
Fisher, 2009, FOXP2 as a molecular window into speech and language, Trends Genet., 25, 166, 10.1016/j.tig.2009.03.002
Lai, 2001, A forkhead-domain gene is mutated in a severe speech and language disorder, Nature, 413, 519, 10.1038/35097076
MacDermot, 2005, Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits, Am. J. Hum. Genet., 76, 1074, 10.1086/430841
Shriberg, 2006, Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2, J. Speech Lang. Hear. Res., 49, 500, 10.1044/1092-4388(2006/038)
Zeesman, 2006, Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2, Am. J. Med. Genet. A., 140, 509, 10.1002/ajmg.a.31110
Enard, 2002, Molecular evolution of FOXP2, a gene involved in speech and language, Nature, 418, 869, 10.1038/nature01025
Enard, 2009, A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice, Cell, 137, 961, 10.1016/j.cell.2009.03.041
Groszer, 2008, Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits, Curr. Biol., 18, 354, 10.1016/j.cub.2008.01.060
Vernes, 2011, Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain, PLoS Genet., 7, e1002145, 10.1371/journal.pgen.1002145
Krause, 2007, The derived FOXP2 variant of modern humans was shared with Neandertals, Curr. Biol., 17, 1908, 10.1016/j.cub.2007.10.008
Ptak, 2009, Linkage disequilibrium extends across putative selected sites in FOXP2, Mol. Biol. Evol., 26, 2181, 10.1093/molbev/msp143
Maricic, 2013, A recent evolutionary change affects a regulatory element in the human FOXP2 gene, Mol. Biol. Evol., 30, 844, 10.1093/molbev/mss271
Abecasis, 2010, A map of human genome variation from population-scale sequencing, Nature, 467, 1061, 10.1038/nature09534
Spiteri, 2007, Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain, Am. J. Hum. Genet., 81, 1144, 10.1086/522237
Vernes, 2007, High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders, Am. J. Hum. Genet., 81, 1232, 10.1086/522238
Tajima, 1989, Statistical method for testing the neutral mutation hypothesis by DNA polymorphism, Genetics, 123, 585, 10.1093/genetics/123.3.585
Fay, 2000, Hitchhiking under positive Darwinian selection, Genetics, 155, 1405, 10.1093/genetics/155.3.1405
Nielsen, 2005, Genomic scans for selective sweeps using SNP data, Genome Res., 15, 1566, 10.1101/gr.4252305
Fisher, 1954
Vernes, 2008, A functional genetic link between distinct developmental language disorders, N. Engl. J. Med., 359, 2337, 10.1056/NEJMoa0802828
Sokal, 2012
Hu, 2012, Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data, Hum. Genet., 131, 665, 10.1007/s00439-011-1111-9
Achaz, 2008, Testing for neutrality in samples with sequencing errors, Genetics, 179, 1409, 10.1534/genetics.107.082198
Grossman, 2010, A composite of multiple signals distinguishes causal variants in regions of positive selection, Science, 327, 883, 10.1126/science.1183863
Vaquerizas, 2009, A census of human transcription factors: function, expression and evolution, Nat. Rev. Genet., 10, 252, 10.1038/nrg2538
Gerstein, 2012, Architecture of the human regulatory network derived from ENCODE data, Nature, 489, 91, 10.1038/nature11245
Park, 2009, ChIP-seq: advantages and challenges of a maturing technology, Nat. Rev. Genet., 10, 669, 10.1038/nrg2641
Biedler, 1973, Morphology and growth, tumorigenicity, and cytogenetics of human neuroblastoma cells in continuous culture, Cancer Res., 33, 2643
Whitehouse, 2011, CNTNAP2 variants affect early language development in the general population, Genes Brain Behav., 10, 451, 10.1111/j.1601-183X.2011.00684.x
Peñagarikano, 2011, Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits, Cell, 147, 235, 10.1016/j.cell.2011.08.040
Alarcón, 2008, Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene, Am. J. Hum. Genet., 82, 150, 10.1016/j.ajhg.2007.09.005
Lu, 2006, Cloning, purification, and refolding of human paraoxonase-3 expressed in Escherichia coli and its characterization, Protein Expr. Purif., 46, 92, 10.1016/j.pep.2005.07.021
Chen, 2003, Association between the severity of angiographic coronary artery disease and paraoxonase gene polymorphisms in the National Heart, Lung, and Blood Institute-sponsored Women’s Ischemia Syndrome Evaluation (WISE) study, Am. J. Hum. Genet., 72, 13, 10.1086/345312
Sanghera, 1998, DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease, Am. J. Hum. Genet., 62, 36, 10.1086/301669
Fukumura, 2007, Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma gene, Nucleic Acids Res., 35, 5303, 10.1093/nar/gkm569
Voineagu, 2011, Transcriptomic analysis of autistic brain reveals convergent molecular pathology, Nature, 474, 380, 10.1038/nature10110
Wilson, 2012, Changes in the chondrocyte and extracellular matrix proteome during post-natal mouse cartilage development, Mol. Cell. Proteomics, 11, 10.1074/mcp.M111.014159
Lobley, 2003, Identification of human and mouse CatSper3 and CatSper4 genes: characterisation of a common interaction domain and evidence for expression in testis, Reprod. Biol. Endocrinol., 1, 53, 10.1186/1477-7827-1-53
Lu, 2003, Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene Ggn, interact with mouse POG and play a role in spermatogenesis, J. Biol. Chem., 278, 16289, 10.1074/jbc.M211023200
Kim, 2007, Positive selection at the protein network periphery: evaluation in terms of structural constraints and cellular context, Proc. Natl. Acad. Sci. USA, 104, 20274, 10.1073/pnas.0710183104