메뉴 건너뛰기




Volumn 122, Issue 3, 1996, Pages 252-257

Transgenic insertional mutagenesis: Applications to inner-ear genetics

Author keywords

[No Author keywords available]

Indexed keywords

ALPORT SYNDROME; ANIMAL EXPERIMENT; ANIMAL MODEL; BRAIN MALFORMATION; CHROMOSOME 14Q; CHROMOSOME 2Q; CHROMOSOME XQ; GENE INSERTION; GENE MUTATION; GENETIC RECOMBINATION; HUMAN; INNER EAR; MOUSE; NONHUMAN; PERCEPTION DEAFNESS; REVIEW; RHOMBENCEPHALON; TRANSGENE; USHER SYNDROME; WAARDENBURG SYNDROME;

EID: 0029913019     PISSN: 08864470     EISSN: None     Source Type: Journal    
DOI: 10.1001/archotol.1996.01890150030006     Document Type: Review
Times cited : (4)

References (55)
  • 1
    • 0021842566 scopus 로고
    • Genetic factors affecting hearing development
    • Steel KP, Bock GR Genetic factors affecting hearing development Acta Otolaryngol 1985;421:48-56
    • (1985) Acta Otolaryngol , vol.421 , pp. 48-56
    • Steel, K.P.1    Bock, G.R.2
  • 2
    • 0002204298 scopus 로고
    • Alport syndrome
    • Schner RW, Gottschalk CW, eds. Boston, Mass: Little Brown & Co Inc;
    • Atkin CL, Gregory MC, Border WA. Alport syndrome. In: Schner RW, Gottschalk CW, eds. Diseases of the Kidney. Boston, Mass: Little Brown & Co Inc; 1988: 617-641.
    • (1988) Diseases of the Kidney , pp. 617-641
    • Atkin, C.L.1    Gregory, M.C.2    Border, W.A.3
  • 3
    • 0025292712 scopus 로고
    • Identification of mutations in the COL4A5 collagen gene in Alport syndrome
    • Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 1990;248:1224-1226.
    • (1990) Science , vol.248 , pp. 1224-1226
    • Barker, D.F.1    Hostikka, S.L.2    Zhou, J.3
  • 4
    • 0024342991 scopus 로고
    • Waardenburg syndrome type 1 in a child with de-novo inversion (2) (q35q37.3)
    • Ishikiriyama S, Tonoki H, Shibuya Y, et al. Waardenburg syndrome type 1 in a child with de-novo inversion (2) (q35q37.3). Am J Med Genet 1989;33:505-507
    • (1989) Am J Med Genet , vol.33 , pp. 505-507
    • Ishikiriyama, S.1    Tonoki, H.2    Shibuya, Y.3
  • 5
    • 0025279087 scopus 로고
    • Assignment of the locus for Waardenburg syndrome type 1 to human chromosome 2q37 and possible homology to the Splotch mouse
    • Foy C, Newton V, Wellesley D, Harris F, Read AP. Assignment of the locus for Waardenburg syndrome type 1 to human chromosome 2q37 and possible homology to the Splotch mouse Am J Hum Genet. 1990,46:1017-1023.
    • (1990) Am J Hum Genet , vol.46 , pp. 1017-1023
    • Foy, C.1    Newton, V.2    Wellesley, D.3    Harris, F.4    Read, A.P.5
  • 6
    • 0025925068 scopus 로고
    • Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomam of Pax-3
    • Epstein DJ, Vekemans M, Gros P. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomam of Pax-3 Cell. 1991;67:767-774.
    • (1991) Cell , vol.67 , pp. 767-774
    • Epstein, D.J.1    Vekemans, M.2    Gros, P.3
  • 7
    • 0026602124 scopus 로고
    • Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    • Tassabehji M, Read AP, Newton VE, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355:635-636.
    • (1992) Nature , vol.355 , pp. 635-636
    • Tassabehji, M.1    Read, A.P.2    Newton, V.E.3
  • 8
    • 0026584439 scopus 로고
    • An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
    • Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature. 1992;355:637-638
    • (1992) Nature , vol.355 , pp. 637-638
    • Baldwin, C.T.1    Hoth, C.F.2    Amos, J.A.3    Da-Silva, E.O.4    Milunsky, A.5
  • 9
    • 0027439075 scopus 로고
    • Mutations in the paired domain of the human Pax-3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)
    • Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human Pax-3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet. 1993;52:455-462.
    • (1993) Am J Hum Genet , vol.52 , pp. 455-462
    • Hoth, C.F.1    Milunsky, A.2    Lipsky, N.3    Sheffer, R.4    Clarren, S.K.5    Baldwin, C.T.6
  • 10
    • 0025308736 scopus 로고
    • Localization of Usher syndrome type II to chromosome 1q
    • Kimberling WJ, Weston MD, Möller C, et al. Localization of Usher syndrome type II to chromosome 1q. Genomics. 1990;7.245-249.
    • (1990) Genomics , vol.7 , pp. 245-249
    • Kimberling, W.J.1    Weston, M.D.2    Möller, C.3
  • 11
    • 0027058632 scopus 로고
    • A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
    • Kaplan J, Gerber S, Bonneau D, et al. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics. 1992,14:979-987
    • (1992) Genomics , vol.14 , pp. 979-987
    • Kaplan, J.1    Gerber, S.2    Bonneau, D.3
  • 12
    • 0027058412 scopus 로고
    • Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
    • Kimberling WJ, Moller CG, Davenport S, et al. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 1992; 14.988-994.
    • (1992) Genomics , vol.14 , pp. 988-994
    • Kimberling, W.J.1    Moller, C.G.2    Davenport, S.3
  • 13
    • 0027058291 scopus 로고
    • Localization of two genes for Usher syndrome type I to chromosome 11
    • Smith RJH, Lee EC, Kimberling WJ, et al. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 1992;14:995-1002
    • (1992) Genomics , vol.14 , pp. 995-1002
    • Smith, R.J.H.1    Lee, E.C.2    Kimberling, W.J.3
  • 14
    • 0027083268 scopus 로고
    • Localization of the gene for branchiootorenal syndrome to chromosome 8q
    • Smith RJ, Coppage KB, Ankerstjerne JKB, et al Localization of the gene for branchiootorenal syndrome to chromosome 8q. Genomics 1992;14:841-844.
    • (1992) Genomics , vol.14 , pp. 841-844
    • Smith, R.J.1    Coppage, K.B.2    Ankerstjerne, J.K.B.3
  • 15
    • 0024241401 scopus 로고
    • The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK
    • Brunner HG, van Bennekom CA, Lambermon EMM, et al. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK Hum Genet 1988,80 337-340.
    • (1988) Hum Genet , vol.80 , pp. 337-340
    • Brunner, H.G.1    Van Bennekom, C.A.2    Lambermon, E.M.M.3
  • 16
    • 0024120449 scopus 로고
    • X-linked mixed deafness with stapes fixation in a Mauritian kindred: Linkage to Xq probe pDP34
    • Wallis C, Ballo R, Wallis G, Beighton P, Goldblatt J. X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34. Genomics. 1988;3:299-301.
    • (1988) Genomics , vol.3 , pp. 299-301
    • Wallis, C.1    Ballo, R.2    Wallis, G.3    Beighton, P.4    Goldblatt, J.5
  • 17
    • 0028988233 scopus 로고
    • Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
    • de Kok YJM, van der Maarel SM, Bitner-Glindzicz M, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995,267:685-688.
    • (1995) Science , vol.267 , pp. 685-688
    • De Kok, Y.J.M.1    Van Der Maarel, S.M.2    Bitner-Glindzicz, M.3
  • 18
    • 0027941201 scopus 로고
    • A new non-syndromic X-linked sensorineural hearing impairment linked to Xp21.2
    • Lalwani A A new non-syndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am J Hum Genet. 1994;55:685-694.
    • (1994) Am J Hum Genet , vol.55 , pp. 685-694
    • Lalwani, A.1
  • 20
    • 0028249690 scopus 로고
    • A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
    • Guilford P, Arab SB, Blanchard S, et al. A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet. 1994;6:24-28
    • (1994) Nat Genet , vol.6 , pp. 24-28
    • Guilford, P.1    Arab, S.B.2    Blanchard, S.3
  • 21
    • 0028306509 scopus 로고
    • A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
    • Guilford P, Ayadi H, Blanchard S, et al. A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet. 1994;3:989-993
    • (1994) Hum Mol Genet , vol.3 , pp. 989-993
    • Guilford, P.1    Ayadi, H.2    Blanchard, S.3
  • 22
    • 0026519547 scopus 로고
    • Sensorineural deafness inherited as a tissue specific mitochondrial disorder
    • Jaber L, Shohat M, Bu X, et al. Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J Med Genet. 1992;29:86-90.
    • (1992) J Med Genet , vol.29 , pp. 86-90
    • Jaber, L.1    Shohat, M.2    Bu, X.3
  • 24
    • 0027507490 scopus 로고
    • A genetic linkage map of the mouse current applications and future prospects
    • Copeland NG, Jenkins NA, Gilbert DJ, et al. A genetic linkage map of the mouse current applications and future prospects Science. 1993;262:57-66.
    • (1993) Science , vol.262 , pp. 57-66
    • Copeland, N.G.1    Jenkins, N.A.2    Gilbert, D.J.3
  • 26
    • 0024283304 scopus 로고
    • Transgenic animals
    • Jaenisch R. Transgenic animals. Science. 1988;240:1468-1474.
    • (1988) Science , vol.240 , pp. 1468-1474
    • Jaenisch, R.1
  • 29
    • 0022366933 scopus 로고
    • An inherited limb deformity created by insertional mutagenesis in a transgenic mouse
    • Woychik RP, Stewart TA, Davis LG, D'Eustachio P, Leder P. An inherited limb deformity created by insertional mutagenesis in a transgenic mouse. Nature 1985;318:36-40.
    • (1985) Nature , vol.318 , pp. 36-40
    • Woychik, R.P.1    Stewart, T.A.2    Davis, L.G.3    D'Eustachio, P.4    Leder, P.5
  • 30
    • 0026431967 scopus 로고
    • Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning
    • Brilliant MH, Gondo Y, Eicher EM. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science. 1991;252:566-569
    • (1991) Science , vol.252 , pp. 566-569
    • Brilliant, M.H.1    Gondo, Y.2    Eicher, E.M.3
  • 31
    • 0027204149 scopus 로고
    • Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
    • Hodgkinson CA, Moore KJ, Nakayama A, et al Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell. 1993,74:395-404.
    • (1993) Cell , vol.74 , pp. 395-404
    • Hodgkinson, C.A.1    Moore, K.J.2    Nakayama, A.3
  • 32
    • 0020569249 scopus 로고
    • Embryonic lethal mutation in mice induced by retrovirus insertion into the a1(I) collagen gene
    • Schnieke A, Harbers K, Jaenisch R Embryonic lethal mutation in mice induced by retrovirus insertion into the a1(I) collagen gene. Nature. 1983;304: 315-320.
    • (1983) Nature , vol.304 , pp. 315-320
    • Schnieke, A.1    Harbers, K.2    Jaenisch, R.3
  • 33
    • 0021689065 scopus 로고
    • Tissue-specific expression of the rat pancreatic elastase 1 gene in transgenic mice
    • Swift GH, Hammer RE, MacDonald RJ, Brinster RL. Tissue-specific expression of the rat pancreatic elastase 1 gene in transgenic mice Cell 1984,38: 639-646.
    • (1984) Cell , vol.38 , pp. 639-646
    • Swift, G.H.1    Hammer, R.E.2    MacDonald, R.J.3    Brinster, R.L.4
  • 34
    • 0019847283 scopus 로고
    • Integration and stable germ line transmission of genes injected into mouse pronuclei
    • Gordon JW, Ruddle FH. Integration and stable germ line transmission of genes injected into mouse pronuclei. Science 1981,214:1244-1246.
    • (1981) Science , vol.214 , pp. 1244-1246
    • Gordon, J.W.1    Ruddle, F.H.2
  • 35
    • 0242568295 scopus 로고
    • Germ line integration and mendelian transmission of the exogenous Moloney leukemia virus
    • Jaenisch R. Germ line integration and mendelian transmission of the exogenous Moloney leukemia virus. Proc Natl Acad Sci U S A. 1976,73:1260-1264.
    • (1976) Proc Natl Acad Sci U S A , vol.73 , pp. 1260-1264
    • Jaenisch, R.1
  • 37
    • 0026787928 scopus 로고
    • Insertional mutation of 'classical' and novel genes in transgenic mice
    • Meisler MH Insertional mutation of 'classical' and novel genes in transgenic mice Trends Genet 1992,8:341-344
    • (1992) Trends Genet , vol.8 , pp. 341-344
    • Meisler, M.H.1
  • 38
    • 0025007616 scopus 로고
    • 'Formins': Proteins deduced from the alternative transcripts of the limb deformity gene
    • Woychik RP, Maas RL, Zeller R, Vogt TF, Leder P. 'Formins': proteins deduced from the alternative transcripts of the limb deformity gene. Nature 1990;346: 850-853.
    • (1990) Nature , vol.346 , pp. 850-853
    • Woychik, R.P.1    Maas, R.L.2    Zeller, R.3    Vogt, T.F.4    Leder, P.5
  • 39
    • 0025035808 scopus 로고
    • Disruption of forminencoding transcripts in two mutant limb deformity alleles
    • Maas RL, Zeller R, Woychik RP, Vogt TF, Leder P Disruption of forminencoding transcripts in two mutant limb deformity alleles Nature. 1990;346 853-855.
    • (1990) Nature , vol.346 , pp. 853-855
    • Maas, R.L.1    Zeller, R.2    Woychik, R.P.3    Vogt, T.F.4    Leder, P.5
  • 40
    • 0023352343 scopus 로고
    • Cellular DNA rearrangements and early developmental arrest caused by DNA insertion in transgenic mouse embryos
    • Covarrubias L, Nishida Y, Terao M, D'Eustachio P, Mintz B. Cellular DNA rearrangements and early developmental arrest caused by DNA insertion in transgenic mouse embryos. Mol Cell Biol 1987,7:2243-2247
    • (1987) Mol Cell Biol , vol.7 , pp. 2243-2247
    • Covarrubias, L.1    Nishida, Y.2    Terao, M.3    D'Eustachio, P.4    Mintz, B.5
  • 41
    • 0023355515 scopus 로고
    • Retroviruses and insertional mutagenesis in mice: Proviral integration at the Mov 34 locus leads to early embryonic death
    • Soriano P, Gridley T, Jaenisch R. Retroviruses and insertional mutagenesis in mice: proviral integration at the Mov 34 locus leads to early embryonic death Genes Dev. 1987;1 366-375
    • (1987) Genes Dev. , vol.1 , pp. 366-375
    • Soriano, P.1    Gridley, T.2    Jaenisch, R.3
  • 42
    • 0027980159 scopus 로고
    • Insertional mutation on mouse chromosome 18 with vestibular and craniofacial abnormalities
    • Ting C, Kohrman D, Burgess DL, et al. Insertional mutation on mouse chromosome 18 with vestibular and craniofacial abnormalities. Genetics 136 247-254, 1994.
    • (1994) Genetics , vol.136 , pp. 247-254
    • Ting, C.1    Kohrman, D.2    Burgess, D.L.3
  • 43
    • 0000091387 scopus 로고
    • Twirler: A mutant affecting the inner ear of the house mouse
    • Lyon MF. Twirler: a mutant affecting the inner ear of the house mouse. J Embryol Exp Morphol. 1958;6:105-116.
    • (1958) J Embryol Exp Morphol , vol.6 , pp. 105-116
    • Lyon, M.F.1
  • 44
    • 0025992544 scopus 로고
    • Wocko, a neurological mutant generated in a transgenic mouse pedigree
    • Crenshaw EB, Ryan A, Dillon SR, Kalla K, Rosenfeld MG. Wocko, a neurological mutant generated in a transgenic mouse pedigree. J Neurosci. 1991;11: 1524-1530.
    • (1991) J Neurosci , vol.11 , pp. 1524-1530
    • Crenshaw, E.B.1    Ryan, A.2    Dillon, S.R.3    Kalla, K.4    Rosenfeld, M.G.5
  • 45
    • 0026787030 scopus 로고
    • Transgenic mice: Current applications to the study of auditory and vestibular systems
    • Friedman RA, Ryan AF. Transgenic mice: current applications to the study of auditory and vestibular systems. Otolaryngol Clin North Am 1992;25:1017-1026.
    • (1992) Otolaryngol Clin North Am , vol.25 , pp. 1017-1026
    • Friedman, R.A.1    Ryan, A.F.2
  • 46
    • 0024328536 scopus 로고
    • Altering the genome by homologous recombination
    • Capecchi MR Altering the genome by homologous recombination. Science. 1989;244:1288-1292
    • (1989) Science , vol.244 , pp. 1288-1292
    • Capecchi, M.R.1
  • 47
    • 0026599290 scopus 로고
    • Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1 6
    • Chisaka O, Musci TS, Capecchi MR Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1 6. Nature. 1992;355:516-520.
    • (1992) Nature , vol.355 , pp. 516-520
    • Chisaka, O.1    Musci, T.S.2    Capecchi, M.R.3
  • 48
    • 0025864268 scopus 로고
    • Disruption of the Hox-1 6 homeobox gene results in defects in a region corresponding to its rostral domain of expression
    • Lufkin T, Dietrich A, LeMeur M, Mark M, Chambon P. Disruption of the Hox-1 6 homeobox gene results in defects in a region corresponding to its rostral domain of expression. Cell. 1991;66:1105-1119
    • (1991) Cell , vol.66 , pp. 1105-1119
    • Lufkin, T.1    Dietrich, A.2    Lemeur, M.3    Mark, M.4    Chambon, P.5
  • 49
    • 0027500633 scopus 로고
    • Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear
    • Mansour SL, Goddard JM, Capecchi MR. Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear Development. 1993;117:13-28.
    • (1993) Development , vol.117 , pp. 13-28
    • Mansour, S.L.1    Goddard, J.M.2    Capecchi, M.R.3
  • 50
    • 0023802496 scopus 로고
    • Role of endogenous retroviruses as mutagens: The hairless mutation of mice
    • Stoye JP, Fenner S, Greenoak GE, Moran C, Coffin JM. Role of endogenous retroviruses as mutagens: the hairless mutation of mice Cell. 1988;54.383-391.
    • (1988) Cell , vol.54 , pp. 383-391
    • Stoye, J.P.1    Fenner, S.2    Greenoak, G.E.3    Moran, C.4    Coffin, J.M.5
  • 51
    • 0028274040 scopus 로고
    • Mice lacking brain-derived neurotrophic factor develop with sensory deficits
    • Ernfors P Lee K-F, Jaenisch R Mice lacking brain-derived neurotrophic factor develop with sensory deficits Nature 1994;368:147-150.
    • (1994) Nature , vol.368 , pp. 147-150
    • Ernfors, P.1    Lee, K.-F.2    Jaenisch, R.3
  • 52
    • 0028351190 scopus 로고
    • Targeted disruption of the BDNF gene perturbs brain and sensory neuron development but not motor neuron development
    • Jones KR, Farinas I, Backus C, Reichardt LF. Targeted disruption of the BDNF gene perturbs brain and sensory neuron development but not motor neuron development Cell. 1994;76:989-999
    • (1994) Cell , vol.76 , pp. 989-999
    • Jones, K.R.1    Farinas, I.2    Backus, C.3    Reichardt, L.F.4
  • 53
    • 0028322183 scopus 로고
    • Severe sensory and sympathetic deficits in mice lacking neurotrophin-3
    • Farin̄as I, Jones KR, Backus C, Wang X-Y, Reichardt LF. Severe sensory and sympathetic deficits in mice lacking neurotrophin-3. Nature. 1994;369.658-661.
    • (1994) Nature , vol.369 , pp. 658-661
    • Farinas, I.1    Jones, K.R.2    Backus, C.3    Wang, X.-Y.4    Reichardt, L.F.5
  • 54
    • 0000345784 scopus 로고
    • Ontogeny of structure and function in the vertebrate auditory system
    • Jacobson M, ed New York, NY: Springer-Verlag NY Inc
    • Rubel EW. Ontogeny of structure and function in the vertebrate auditory system. In: Jacobson M, ed Handbook of Sensory Physiology. New York, NY: Springer-Verlag NY Inc; 1978:135-237
    • (1978) Handbook of Sensory Physiology , pp. 135-237
    • Rubel, E.W.1
  • 55
    • 0024495824 scopus 로고
    • Expression pattern of the FGF-related protooncogene int-2 suggests multiple rotes in fetal development
    • Wilkinson DG, Peters G, Dickson C, McMahon AP. Expression pattern of the FGF-related protooncogene int-2 suggests multiple rotes in fetal development. Development. 1989;105:131-136
    • (1989) Development , vol.105 , pp. 131-136
    • Wilkinson, D.G.1    Peters, G.2    Dickson, C.3    McMahon, A.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.