Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein

Physiological Genomics

Volumn 39, Issue 3, 2009, Pages 195-201

  Lee, Hee Keun ^a   Song, Mee Hyun ^b,c   Kang, Myengmo ^c   Lee, Jung Tae ^d   Kong, Kyoung Ah ^c   Choi, Su Jin ^a   Lee, Kyu Yup ^e   Venselaar, Hanka ^f   Vriend, Gert ^f   Lee, Won Sang ^c   Park, Hong Joon ^g   Kwon, Taeg Kyu ^d   Bok, Jinwoong ^c   Kim, Un Kyung ^a  

^a Kyungpook National University   (South Korea)

^b Kwandong University College of Medicine   (South Korea)

^c Yonsei University College of Medicine   (South Korea)

^d Keimyung University School of Medicine   (South Korea)

^e Kyungpook National University School of Medicine   (South Korea)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g Soree Ear Clinic   (South Korea)

Author keywords

Hearing loss; Inner ear; X linked deafness type 3

Indexed keywords

AMINO ACID; MUTANT PROTEIN; TRANSCRIPTION FACTOR POU; TRANSCRIPTION FACTOR POU3F4; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CONGENITAL DEAFNESS; DISEASE ASSOCIATION; FEMALE; GENE ACTIVITY; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; INNER EAR MALFORMATION; MALE; MESODERM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN TERTIARY STRUCTURE; REPORTER GENE; SCHOOL CHILD; TRANSACTIVATION; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; CELL LINE; DEAFNESS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; LUCIFERASES; MALE; MICE; MICROSCOPY, FLUORESCENCE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POU DOMAIN FACTORS; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT FUSION PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

EID: 72949103708     PISSN: 10948341     EISSN: 15312267     Source Type: Journal    
DOI: 10.1152/physiolgenomics.00100.2009     Document Type: Article

References (36)

1. Arnold JS, Braunstein EM, Ohyama T, Groves AK, Adams JC, Brown MC, Morrow BE. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet 15: 1629-1639, 2006.
2. Bok J, Chang W, Wu DK. Patterning and morphogenesis of the vertebrate inner ear. Int J Dev Biol 51: 521-533, 2007.
3. Braunstein EM, Crenshaw EB 3rd, Morrow BE, Adams JC. Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation. J Assoc Res Otolaryngol 9: 33-43, 2008.
4. Chinea G, Padron G, Hooft RW, Sander C, Vriend G. The use of position-specific rotamers in model building by homology. Proteins 23: 415-421, 1995.
5. Cokol M, Nair R, Rost B. Finding nuclear localization signals. EMBO Rep 1: 411-415, 2000.
6. Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H. Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat 29: 545-554, 2008.
7. Cremers CW, Snik AF, Huygen PL, Joosten FB, Cremers FP. Xlinked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFN3). Adv Otorhinolaryngol 61: 161-167, 2002.
8. Cremers FP, Cremers FR, Kremer H. POU3F4 and mixed deafness with temporal defect (DFN3). In: Inborn Errors of Development, edited by Epstein CJ, Erickson RP, and Wynshaw-Boris A. New York: Oxford University Press, 2008, p. 1042-1047.
9. De Filippis V, Sander C, Vriend G. Predicting local structural changes that result from point mutations. Protein Eng 7: 1203-1208, 1994.
10. De Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH, Cremers FP. 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, 1995.
11. De Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267: 685-688, 1995.
12. Dominov JA, Miller JB. POU homeodomain genes and myogenesis. Dev Genet 19: 108-118, 1996.
13. Hara Y, Rovescalli AC, Kim Y, Nirenberg M. Structure and evolution of four POU domain genes expressed in mouse brain. Proc Natl Acad Sci USA 89: 3280-3284, 1992.
14. Hengen PN. Methods and reagents. Purification of GST fusion proteins. Trends Biochem Sci 21: 400-401, 1996.
15. Hertzano R, Dror AA, Montcouquiol M, Ahmed ZM, Ellsworth B, Camper S, Friedman TB, Kelley MW, Avraham KB. Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system. Eur J Neurosci 25: 999-1005, 2007.
16. Hertzano R, Montcouquiol M, Rashi-Elkeles S, Elkon R, Yucel R, Frankel WN, Rechavi G, Moroy T, Friedman TB, Kelley MW, Avraham KB. Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet 13: 2143-2153, 2004.
17. Hussain MA, Lee J, Miller CP, Habener JF. POU domain transcription factor brain 4 confers pancreatic alpha-cell-specific expression of the proglucagon gene through interaction with a novel proximal promoter G1 element. Mol Cell Biol 17: 7186-7194, 1997.
18. Kim J, Kim EY, Lee JS, Lee WS, Kim HN. Temporal bone CT findings in Cornelia de Lange syndrome. AJNR Am J Neuroradiol 29: 569-573, 2008.
19. Klemm JD, Rould MA, Aurora R, Herr W, Pabo CO. Crystal structure of the Oct-1 POU domain bound to an octamer site: DNA recognition with tethered DNA-binding modules. Cell 77: 21-32, 1994.
20. Le Moine C, Young WS 3rd. RHS2, a POU domain-containing gene, and its expression in developing and adult rat. Proc Natl Acad Sci USA 89: 3285-3289, 1992.
21. Malik KF, Kim J, Hartman AL, Kim P, Young WS 3rd. Binding preferences of the POU domain protein Brain-4: implications for autoregulation. Brain Res Mol Brain Res 38: 209-221, 1996.
22. Mathis JM, Simmons DM, He X, Swanson LW, Rosenfeld MG. Brain 4: a novel mammalian POU domain transcription factor exhibiting restricted brain-specific expression. EMBO J 11: 2551-2561, 1992.
23. Minowa O, Ikeda K, Sugitani Y, Oshima T, Nakai S, Katori Y, Suzuki M, Furukawa M, Kawase T, Zheng Y, Ogura M, Asada Y, Watanabe K, Yamanaka H, Gotoh S, Nishi-Takeshima M, Sugimoto T, Kikuchi T, Takasaka T, Noda T. Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science 285: 1408-1411, 1999.
24. Morton NE. Genetic epidemiology of hearing impairment. Ann NY Acad Sci 630: 16-31, 1991.
25. Okazawa H, Imafuku I, Minowa MT, Kanazawa I, Hamada H, Mouradian MM. Regulation of striatal D1A dopamine receptor gene transcription by Brn-4. Proc Natl Acad Sci USA 93: 11933-11938, 1996.
26. Petersen MB, Wang Q, Willems PJ. Sex-linked deafness. Clin Genet 73: 14-23, 2008.
27. Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 33: 326-330, 1991.
28. Phippard D, Heydemann A, Lechner M, Lu L, Lee D, Kyin T, Crenshaw EB 3rd. Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule. Hear Res 120: 77-85, 1998.
29. Phippard D, Lu L, Lee D, Saunders JC, Crenshaw EB 3rd. Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. J Neurosci 19: 5980-5989, 1999.
30. Reznikoff CA, Brankow DW, Heidelberger C. Establishment and characterization of a cloned line of C3H mouse embryo cells sensitive to postconfluence inhibition of division. Cancer Res 33: 3231-3238, 1973.
31. Riccomagno MM, Martinu L, Mulheisen M, Wu DK, Epstein DJ. Specification of the mammalian cochlea is dependent on Sonic hedgehog. Genes Dev 16: 2365-2378, 2002.
32. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279: 1950-1954, 1998.
33. Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage, http:// webh01.ua.ac.be/hhh.
34. Vriend G. WHAT IF: a molecular modeling and drug design program. J Mol Graph 8: 52-56, 29, 1990.
35. Weiss S, Gottfried I, Mayrose I, Khare SL, Xiang M, Dawson SJ, Avraham KB. The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. Mol Cell Biol 23: 7957-7964, 2003.
36. Welter JF, Gali H, Crish JF, Eckert RL. Regulation of human involucrin promoter activity by POU domain proteins. J Biol Chem 271: 14727-14733, 1996.