A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs

[1]  Richard Kennaway,et al.  On genes and form , 2017, Development.

[2]  S. Carroll,et al.  Gain of cis-regulatory activities underlies novel domains of wingless gene expression in Drosophila , 2015, Proceedings of the National Academy of Sciences.

[3]  Weiwei Guo,et al.  The Morphology and Electrophysiology of the Cochlea of the Miniature Pig , 2015, Anatomical record.

[4]  J. Keith Joung,et al.  Efficient Delivery of Genome-Editing Proteins In Vitro and In Vivo , 2014, Nature Biotechnology.

[5]  V. Dantzer,et al.  Association of MITF gene with hearing and pigmentation phenotype in Hedlund white American mink (Neovison vison) , 2014, Journal of Genetics.

[6]  Cosmas D. Arnold,et al.  Quantitative genome-wide enhancer activity maps for five Drosophila species show functional enhancer conservation and turnover during cis-regulatory evolution , 2014, Nature Genetics.

[7]  Deqing Hu,et al.  Enhancer malfunction in cancer. , 2014, Molecular cell.

[8]  Lars Hufnagel,et al.  Subtle Changes in Motif Positioning Cause Tissue-Specific Effects on Robustness of an Enhancer's Activity , 2014, PLoS genetics.

[9]  Yuan Zhang,et al.  Genomic analyses identify distinct patterns of selection in domesticated pigs and Tibetan wild boars , 2013, Nature Genetics.

[10]  P. Tak,et al.  The resolution of inflammation , 2012, Nature Reviews Immunology.

[11]  J. Matthews,et al.  Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses , 2012, PLoS Genetics.

[12]  Huanming Yang,et al.  An atlas of DNA methylomes in porcine adipose and muscle tissues , 2012, Nature Communications.

[13]  O. Distl,et al.  A MITF Mutation Associated with a Dominant White Phenotype and Bilateral Deafness in German Fleckvieh Cattle , 2011, PloS one.

[14]  P. Wittkopp,et al.  Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergence , 2011, Nature Reviews Genetics.

[15]  Jeffrey Ross-Ibarra,et al.  Identification of a functional transposon insertion in the maize domestication gene tb1 , 2011, Nature Genetics.

[16]  Michael P. Eichenlaub,et al.  De Novo Genesis of Enhancers in Vertebrates , 2011, PLoS biology.

[17]  L. Comai.  Faculty Opinions recommendation of Morphological evolution caused by many subtle-effect substitutions in regulatory DNA. , 2011 .

[18]  Mark Rebeiz,et al.  Evolutionary origin of a novel gene expression pattern through co-option of the latent activities of existing regulatory sequences , 2011, Proceedings of the National Academy of Sciences.

[19]  K. Lewis,et al.  Minor change, major difference: divergent functions of highly conserved cis-regulatory elements subsequent to whole genome duplication events , 2011, Development.

[20]  J. Borovanský,et al.  “Transcription physiology” of pigment formation in melanocytes: central role of MITF , 2010, Experimental dermatology.

[21]  R. Kist,et al.  Loss of Sox9 in the periotic mesenchyme affects mesenchymal expansion and differentiation, and epithelial morphogenesis during cochlea development in the mouse. , 2010, Developmental biology.

[22]  M. Goossens,et al.  Review and update of mutations causing Waardenburg syndrome , 2010, Human mutation.

[23]  V. Gallo,et al.  The Yin and Yang of Sox proteins: Activation and repression in development and disease , 2009, Journal of neuroscience research.

[24]  S. Carroll,et al.  Rapid Evolution of Sex Pheromone-Producing Enzyme Expression in Drosophila , 2009, PLoS biology.

[25]  Wei-Wei Guo,et al.  Smad5 haploinsufficiency leads to hair cell and hearing loss , 2009, Developmental neurobiology.

[26]  A. Visel,et al.  Response to Comment on "Human-Specific Gain of Function in a Developmental Enhancer" , 2009, Science.

[27]  K. Lindblad-Toh,et al.  Efficient mapping of mendelian traits in dogs through genome-wide association , 2007, Nature Genetics.

[28]  J. Neves,et al.  Differential expression of Sox2 and Sox3 in neuronal and sensory progenitors of the developing inner ear of the chick , 2007, The Journal of comparative neurology.

[29]  G. Wray.  The evolutionary significance of cis-regulatory mutations , 2007, Nature Reviews Genetics.

[30]  Alex Andrianopoulos,et al.  Cis-Regulatory Elements in the Accord Retrotransposon Result in Tissue-Specific Expression of the Drosophila melanogaster Insecticide Resistance Gene Cyp6g1 , 2007, Genetics.

[31]  D. Fisher,et al.  MITF: master regulator of melanocyte development and melanoma oncogene. , 2006, Trends in molecular medicine.

[32]  T. Awata,et al.  Sequencing, mapping and nucleotide variation of porcine coat colour genes EDNRB, MYO5A, KITLG, SLC45A2, RAB27A, SILV and MITF. , 2006, Animal genetics.

[33]  S. Carroll,et al.  Evolution at Two Levels: On Genes and Form , 2005, PLoS biology.

[34]  S. Carroll,et al.  Chance caught on the wing: cis-regulatory evolution and the origin of pigment patterns in Drosophila , 2005, Nature.

[35]  N. Copeland,et al.  Melanocytes and the microphthalmia transcription factor network. , 2004, Annual review of genetics.

[36]  D. Begun,et al.  Strong selective sweep associated with a transposon insertion in Drosophila simulans. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[37]  Yasuhito Kobayashi,et al.  Mouse models for four types of Waardenburg syndrome. , 2003, Pigment cell research.

[38]  K. Schaefer,et al.  The melanocyte inducing factor MITF is stably expressed in cell lines from human clear cell sarcoma , 2003, British Journal of Cancer.

[39]  K. Takahashi,et al.  Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus. , 1999, Journal of biochemistry.

[40]  H. Novotná,et al.  Expression of genes for microphthalmia isoforms, Pax3 and MSG1, in human melanomas. , 1999, Cellular and molecular biology.

[41]  S Shibahara,et al.  An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness. , 1999, Human molecular genetics.

[42]  H. Yamamoto,et al.  Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. , 1998, Biochemical and biophysical research communications.

[43]  E. Cartwright,et al.  Embryonic expression of the chicken Sox2, Sox3 and Sox11 genes suggests an interactive role in neuronal development , 1995, Mechanisms of Development.

[44]  Andrew P. Read,et al.  Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene , 1994, Nature Genetics.

[45]  K. Hashimoto,et al.  Spontaneous Contraction of Leukodermic Patches in Waardenburg Syndrome , 1993, The Journal of dermatology.

[46]  S. Lippard,et al.  High-mobility-group 1 protein mediates DNA bending as determined by ring closures. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[47]  K. Steel,et al.  Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. , 1989, Development.

[48]  F. Meire,et al.  Waardenburg syndrome , 2020, Definitions.