Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

Human Genetics

Volumn 128, Issue 4, 2010, Pages 411-419

  Naranjo, Silvia ^a   Voesenek, Krysta ^b   De La Calle Mustienes, Elisa ^a   Robert Moreno, Alex ^d   Kokotas, Haris ^c   Grigoriadou, Maria ^c   Economides, John ^c   Van Camp, Guy ^e   Hilgert, Nele ^e   Moreno, Felipe ^f   Alsina, Berta ^d   Petersen, Michael B ^c   Kremer, Hannie ^b,g   Gómez Skarmeta, José Luis ^a  

^a UNIVERSIDAD PABLO DE OLAVIDE   (Spain)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d UNIVERSITAT POMPEU FABRA   (Spain)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f HOSPITAL RAMÓN Y CAJAL   (Spain)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; TRANSCRIPTION FACTOR POU; GREEN FLUORESCENT PROTEIN; HYBRID PROTEIN; POU3F4 PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ARTICLE; BRAIN; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENHANCER REGION; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE FUNCTION; HEARING IMPAIRMENT; HUMAN; INNER EAR; KIDNEY; MALE; NONHUMAN; ORGANOGENESIS; PANCREAS; PEDIGREE; PHENOTYPE; POU3F4 GENE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER; XENOPUS; ZEBRA FISH; ANIMAL; ANIMAL EMBRYO; DNA FLANKING REGION; EMBRYOLOGY; FAMILY HEALTH; FEMALE; FLUORESCENCE MICROSCOPY; GENETICS; GROWTH, DEVELOPMENT AND AGING; HEARING; IN SITU HYBRIDIZATION; METABOLISM; NUCLEOTIDE SEQUENCE; REGULATORY SEQUENCE;

5' FLANKING REGION; ANIMALS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EAR, INNER; EMBRYO, NONMAMMALIAN; ENHANCER ELEMENTS, GENETIC; FAMILY HEALTH; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GREEN FLUORESCENT PROTEINS; HEARING; HEARING LOSS; HUMANS; IN SITU HYBRIDIZATION; MALE; MICROSCOPY, FLUORESCENCE; PEDIGREE; POU DOMAIN FACTORS; RECOMBINANT FUSION PROTEINS; REGULATORY SEQUENCES, NUCLEIC ACID; XENOPUS;

EID: 77957551171     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0864-x     Document Type: Article

References (26)

1. KJ Ahn F Passero Jr EB Crenshaw 3rd 2009 Otic mesenchyme expression of Cre recombinase directed by the inner ear enhancer of the Brn4/Pou3f4 gene Genesis 47 137 141 1:CAS:528:DC%2BD1MXkvVWrt7w%3D 10.1002/dvg.20454 19217071
2. ME Alonso B Pernaute M Crespo J Gomez-Skarmeta M Manzanares 2008 Understanding the regulatory genome Int J Dev Biol 53 1367 1378 10.1387/ijdb.072428ma
3. J Bessa JJ Tena E de la Calle-Mustienes A Fernandez-Minan S Naranjo A Fernandez L Montoliu A Akalin B Lenhard F Casares JL Gomez-Skarmeta 2009 Zebrafish enhancer detection (ZED) vector: a new tool to facilitate transgenesis and the functional analysis of cis-regulatory regions in zebrafish Dev Dyn 238 2409 2417 1:CAS:528:DC%2BD1MXhtFOjurrE 10.1002/dvdy.22051 19653328
4. M Bitner-Glindzicz P Turnpenny P Hoglund H Kaariainen EM Sankila SM van der Maarel YJ de Kok HH Ropers FP Cremers M Pembrey, et al. 1995 Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3 Hum Mol Genet 4 1467 1469 1:CAS:528:DyaK2MXnt1altLw%3D 10.1093/hmg/4.8.1467 7581392
5. Cremers FPM, Cremers CWRJ, Kremer H (2008) POU3F4 and mixed deafness with temporal bone defect (DFN3). In: Epstein CJ, Erickson RP, Wynshaw-Boris A (eds) Inborn errors of development. Oxford University Press, San Francisco, pp 1042-1047
6. YJ de Kok GF Merkx SM van der Maarel I Huber S Malcolm HH Ropers FP Cremers 1995 A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene Hum Mol Genet 4 2145 2150 10.1093/hmg/4.11.2145 8589693
7. YJ de Kok SM van der Maarel M Bitner-Glindzicz I Huber AP Monaco S Malcolm ME Pembrey HH Ropers FP Cremers 1995 Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 Science 267 685 688 10.1126/science.7839145 7839145
8. YJ de Kok ER Vossenaar CW Cremers N Dahl J Laporte LJ Hu D Lacombe N Fischel-Ghodsian RA Friedman LS Parnes P Thorpe M Bitner-Glindzicz HJ Pander H Heilbronner J Graveline JT den Dunnen HG Brunner HH Ropers FP Cremers 1996 Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4 Hum Mol Genet 5 1229 1235 10.1093/hmg/5.9.1229 8872461 (Pubitemid 26335839)
9. YJ de Kok CW Cremers HH Ropers FP Cremers 1997 The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation Hum Mutat 10 207 211 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F 9298820 (Pubitemid 27371678)
10. E de la Calle-Mustienes CG Feijoo M Manzanares JJ Tena E Rodríguez-Seguel A Letizia ML Allende JL Gómez-Skarmeta 2005 A functional survey of the enhancer activity of conserved non-coding sequences from vertebrate Iroquois cluster gene deserts Genome Res 15 1061 1072 10.1101/gr.4004805 16024824 (Pubitemid 41126861)
11. Frankel N, Davis GK, Vargas D, Wang S, Payre F, Stern DL (2010) Phenotypic robustness conferred by apparently redundant transcriptional enhancers. Nature. doi: 10.1038/nature09158
12. R Harland 1991 In situ hybridization: an improved whole mount method for Xenopus embryos Methods Cell Biol 36 685 695 1:STN:280:DyaK383ksVWjsw%3D%3D 10.1016/S0091-679X(08)60307-6 1811161
13. RS Heller DA Stoffers A Liu A Schedl EB Crenshaw 3rd OD Madsen P Serup 2004 The role of Brn4/Pou3f4 and Pax6 in forming the pancreatic glucagon cell identity Dev Biol 268 123 134 1:CAS:528:DC%2BD2cXitFKgu7w%3D 10.1016/j.ydbio.2003.12.008 15031110 (Pubitemid 38367855)
14. A Heydemann LC Nguyen EB Crenshaw 3rd 2001 Regulatory regions from the Brn4 promoter direct LACZ expression to the developing forebrain and neural tube Brain Res Dev Brain Res 128 83 90 1:CAS:528:DC%2BD3MXjsFejtbg%3D 10.1016/S0165-3806(01)00137-7 11356266 (Pubitemid 32441800)
15. Y Jeong K El-Jaick E Roessler M Muenke DJ Epstein 2006 A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers Development 133 761 772 1:CAS:528:DC%2BD28Xis1Clurk%3D 10.1242/dev.02239 16407397
16. DM McGaughey RM Vinton J Huynh A Al-Saif MA Beer AS McCallion 2008 Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b Genome Res 18 252 260 1:CAS:528:DC%2BD1cXhvVSrsbk%3D 10.1101/gr.6929408 18071029 (Pubitemid 351240735)
17. SA Miller DD Dykes HF Polesky 1988 A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 1215 1:CAS:528:DyaL1cXhsVKlsrs%3D 10.1093/nar/16.3.1215 3344216
18. K Phillips B Luisi 2000 The virtuoso of versatility: POU proteins that flex to fit J Mol Biol 302 1023 1039 1:CAS:528:DC%2BD3cXnsFWlsbc%3D 10.1006/jmbi.2000.4107 11183772
19. D Phippard A Heydemann M Lechner L Lu D Lee T Kyin EB Crenshaw 3rd 1998 Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule Hear Res 120 77 85 1:CAS:528:DyaK1cXktFyisbc%3D 10.1016/S0378-5955(98)00059-8 9667433 (Pubitemid 28267385)
20. D Phippard L Lu D Lee JC Saunders EB Crenshaw 3rd 1999 Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear J Neurosci 19 5980 5989 1:CAS:528:DyaK1MXksVyktbk%3D 10407036
21. D Phippard Y Boyd V Reed G Fisher WK Masson EP Evans JC Saunders EB Crenshaw 3rd 2000 The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear Hum Mol Genet 9 79 85 1:CAS:528: DC%2BD3cXmt1eruw%3D%3D 10.1093/hmg/9.1.79 10587581
22. AM Pittman S Naranjo E Webb P Broderick EH Lips T van Wezel H Morreau K Sullivan S Fielding P Twiss J Vijayakrishnan F Casares M Qureshi JL Gomez-Skarmeta RS Houlston 2009 The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression Genome Res 19 987 999 1:CAS:528:DC%2BD1MXntFGrsL8%3D 10.1101/gr.092668.109 19395656
23. D Robinson M Lamont G Curtis DC Shields P Phelps 1992 A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome Hum Genet 90 316 318 1:STN:280:DyaK3s7jvVKhtQ%3D%3D 10.1007/BF00220090 1362559
24. AK Ryan MG Rosenfeld 1997 POU domain family values: flexibility, partnerships, and developmental codes Genes Dev 11 1207 1225 1:CAS:528:DyaK2sXjsFaitb8%3D 10.1101/gad.11.10.1207 9171367
25. JJ Tena A Neto E de la Calle-Mustienes C Bras-Pereira F Casares JL Gomez-Skarmeta 2007 Odd-skipped genes encode repressors that control kidney development Dev Biol 301 518 531 1:CAS:528:DC%2BD2sXls1Cjsg%3D%3D 10.1016/j.ydbio.2006.08.063 17011543 (Pubitemid 46073980)
26. SE Witta VR Agarwal SM Sato 1995 XIPOU 2, a noggin-inducible gene, has direct neuralizing activity Development 121 721 730 1:CAS:528:DyaK2MXksVCkt7k%3D 7720579