-
2
-
-
0031007349
-
-
Mutations in GJB2 lead to recessive hearing loss [D. P. Kelsell et al., Nature 387, 80 (1997)]. Furthermore, in some geographic locations, GJB2 mutations account for about 50% of recessively inherited deafness [F. Denoyelle et al., Hum. Mol. Genet. 6, 2173 (1997)]. One of the original GJBZ variants identified in profoundly deaf siblings from a family with dominant hearing loss may represent a polymorphism, because this variant was recently identified in individuals with normal hearing [D. A. Scott, M. L. Kraft, E. M. Stone, V. C. Sheffield, R. J. H. Smith, Nature 391, 32 (1998)].
-
(1997)
Nature
, vol.387
, pp. 80
-
-
Kelsell, D.P.1
-
3
-
-
9844252338
-
-
Mutations in GJB2 lead to recessive hearing loss [D. P. Kelsell et al., Nature 387, 80 (1997)]. Furthermore, in some geographic locations, GJB2 mutations account for about 50% of recessively inherited deafness [F. Denoyelle et al., Hum. Mol. Genet. 6, 2173 (1997)]. One of the original GJBZ variants identified in profoundly deaf siblings from a family with dominant hearing loss may represent a polymorphism, because this variant was recently identified in individuals with normal hearing [D. A. Scott, M. L. Kraft, E. M. Stone, V. C. Sheffield, R. J. H. Smith, Nature 391, 32 (1998)].
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2173
-
-
Denoyelle, F.1
-
4
-
-
0031933645
-
-
Mutations in GJB2 lead to recessive hearing loss [D. P. Kelsell et al., Nature 387, 80 (1997)]. Furthermore, in some geographic locations, GJB2 mutations account for about 50% of recessively inherited deafness [F. Denoyelle et al., Hum. Mol. Genet. 6, 2173 (1997)]. One of the original GJBZ variants identified in profoundly deaf siblings from a family with dominant hearing loss may represent a polymorphism, because this variant was recently identified in individuals with normal hearing [D. A. Scott, M. L. Kraft, E. M. Stone, V. C. Sheffield, R. J. H. Smith, Nature 391, 32 (1998)].
-
(1998)
Nature
, vol.391
, pp. 32
-
-
Scott, D.A.1
Kraft, M.L.2
Stone, E.M.3
Sheffield, V.C.4
Smith, R.J.H.5
-
5
-
-
0028815440
-
-
Originally, mutations in MYO7A were found in a syndromic form of deafness, Usher syndrome type IB [D. Weil et al., Nature 374, 60 (1995)]. Since then, mutations have been found in families with both autosomal dominant and recessive hearing loss [X.-Z. Liu et al., Nature Genet. 16, 188 (1997); X.-Z. Liu et al., ibid. 17, 268 (1997)].
-
(1995)
Nature
, vol.374
, pp. 60
-
-
Weil, D.1
-
6
-
-
0030960855
-
-
Originally, mutations in MYO7A were found in a syndromic form of deafness, Usher syndrome type IB [D. Weil et al., Nature 374, 60 (1995)]. Since then, mutations have been found in families with both autosomal dominant and recessive hearing loss [X.-Z. Liu et al., Nature Genet. 16, 188 (1997); X.-Z. Liu et al., ibid. 17, 268 (1997)].
-
(1997)
Nature Genet.
, vol.16
, pp. 188
-
-
Liu, X.-Z.1
-
7
-
-
0031278277
-
-
Originally, mutations in MYO7A were found in a syndromic form of deafness, Usher syndrome type IB [D. Weil et al., Nature 374, 60 (1995)]. Since then, mutations have been found in families with both autosomal dominant and recessive hearing loss [X.-Z. Liu et al., Nature Genet. 16, 188 (1997); X.-Z. Liu et al., ibid. 17, 268 (1997)].
-
(1997)
Nature Genet.
, vol.17
, pp. 268
-
-
Liu, X.-Z.1
-
8
-
-
0030707797
-
-
E. D. Lynch et al., Science 278, 1315 (1997).
-
(1997)
Science
, vol.278
, pp. 1315
-
-
Lynch, E.D.1
-
10
-
-
0028988233
-
-
Y. J. M. de Kok et al., Science 267, 685 (1995).
-
(1995)
Science
, vol.267
, pp. 685
-
-
De Kok, Y.J.M.1
-
11
-
-
7144253457
-
-
note
-
This project was approved by the Israel Ministry of Health Helsinki Committee, by the Human Subjects Division of the Institutional Review Board (IRB) of the University of Washington, and by the IRB of the National Institute of Neurological Disorders and Stroke/ NIDCD. Blood samples were obtained after informed consent.
-
-
-
-
12
-
-
0343928266
-
-
Hearing was measured by pure-tone audiometry on all participating relatives of Family H. A complete clinical history of each affected individual was collected to ensure that the hearing loss was not a result of infection, trauma, acoustic trauma, or ototoxic drugs. The hearing loss in this family is sensorineural, with some members exhibiting conductive hearing loss as well. The audiometric curves of all family members were compared with age- and sex-dependent percentile curves [International Organization for Standardization, International Standard ISO 7029 (1984)]. The criterion for hearing impairment in Family H is hearing loss below the 95th percentile (p95) of the reference curves and a hearing threshold greater than 40 dB at 1000 and 2000 Hz (Fig. 1B). The low-frequency hearing loss progressed with increasing age. Three individuals-504, 505, and 516-were tested further, including otologic examination, speech audiometry and immitance testing (tympanometry and acoustic reflexes), auditory evoked potentials [auditory brainstem response (ABR)], and computerized static posturography. The results suggested that all three individuals had some vestibular dysfunction. However, individual 505 also had evidence of otosclerosis, leading to conductive hearing loss. The ABRs of individuals 504 and 516 were normal with respect to latency and shape at thresholds of 95 to 105 dB. The ABR of individual 505 showed prolonged brainstem transmission time, prolonged absolute latencies of the Vth peak, and absence of stapedial reflex; also, the sensorineural hearing loss thresholds were not identical in both ears (at 250 to 1000 Hz, the left-ear component was mild, whereas the right-ear component was moderate to severe). The hearing loss was bilateral in all other affected individuals.
-
(1984)
International Standard ISO 7029
-
-
-
13
-
-
7144251550
-
-
January
-
3 was used for establishing lymphoblastoid cell lines [H. Neitzel, Hum. Genet. 73, 320 (1986)].
-
(1998)
-
-
Van Camp, G.1
Smith, R.J.H.2
-
15
-
-
0022553788
-
-
3 was used for establishing lymphoblastoid cell lines [H. Neitzel, Hum. Genet. 73, 320 (1986)].
-
(1986)
Hum. Genet.
, vol.73
, pp. 320
-
-
Neitzel, H.1
-
16
-
-
7144264077
-
-
note
-
PCR amplification and genotyping of polymorphic markers were carried out as described (4).
-
-
-
-
17
-
-
0342499587
-
-
Linkage was evaluated using LINKAGE v5.1 (G. M. Lathrop, J. M. Lalouel, C. Julier, J. Ott, Proc. Natl. Acad. Sci. U.S.A. 81, 3443 (1984)] and FASTLINK v3.0P [R. W. Cottingham Jr., R. M. Idury, A. A. Schaffer, Am. J. Hum. Genet. 53, 252 (1993)].
-
(1984)
Proc. Natl. Acad. Sci. U.S.A.
, vol.81
, pp. 3443
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
18
-
-
0027366195
-
-
Linkage was evaluated using LINKAGE v5.1 (G. M. Lathrop, J. M. Lalouel, C. Julier, J. Ott, Proc. Natl. Acad. Sci. U.S.A. 81, 3443 (1984)] and FASTLINK v3.0P [R. W. Cottingham Jr., R. M. Idury, A. A. Schaffer, Am. J. Hum. Genet. 53, 252 (1993)].
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 252
-
-
Cottingham Jr., R.W.1
Idury, R.M.2
Schaffer, A.A.3
-
20
-
-
0028860302
-
-
F. Gibson et al., Nature 374, 62 (1995).
-
(1995)
Nature
, vol.374
, pp. 62
-
-
Gibson, F.1
-
21
-
-
0027448906
-
-
Y.-R. Xia et al., Genomics, 18, 126 (1993); T. Theil, U. Zechner, C. Klett, S. Adolph, T. Moray, Cytogenet. Cell Genet. 66, 267 (1994); N. G. Copeland et al., Science 262, 57 (1993); Mouse Genome Database at the Jackson Laboratory (Web site, www. informatics.jax.org).
-
(1993)
Genomics
, vol.18
, pp. 126
-
-
Xia, Y.-R.1
-
22
-
-
0028344395
-
-
Y.-R. Xia et al., Genomics, 18, 126 (1993); T. Theil, U. Zechner, C. Klett, S. Adolph, T. Moray, Cytogenet. Cell Genet. 66, 267 (1994); N. G. Copeland et al., Science 262, 57 (1993); Mouse Genome Database at the Jackson Laboratory (Web site, www. informatics.jax.org).
-
(1994)
Cytogenet. Cell Genet.
, vol.66
, pp. 267
-
-
Theil, T.1
Zechner, U.2
Klett, C.3
Adolph, S.4
Moray, T.5
-
23
-
-
0027507490
-
-
Y.-R. Xia et al., Genomics, 18, 126 (1993); T. Theil, U. Zechner, C. Klett, S. Adolph, T. Moray, Cytogenet. Cell Genet. 66, 267 (1994); N. G. Copeland et al., Science 262, 57 (1993); Mouse Genome Database at the Jackson Laboratory (Web site, www. informatics.jax.org).
-
(1993)
Science
, vol.262
, pp. 57
-
-
Copeland, N.G.1
-
24
-
-
15844384249
-
-
L. Erkman et al., Nature 381, 603 (1996).
-
(1996)
Nature
, vol.381
, pp. 603
-
-
Erkman, L.1
-
26
-
-
7144260113
-
-
note
-
32P]deoxyguanosine triphosphate during PCR. Each sample was loaded onto a 6% polyacrylamide denaturing gel and electrophoresed at 70 W for 4.5 hours to resolve the 310-bp (wild-type) and 302-bp (Family H mutant allele) fragments. Gels were dried and exposed to x-ray film.
-
-
-
-
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-
-
7144257546
-
-
note
-
Northern blots containing 2 μg of polyadenylated RNA from 16 different human tissues were hybridized with a portion of the human POU4F3 cDNA (Multiple Tissue Northern I and II, Clontech) according to the manufacturer's protocol. The probe was a PCR-generated fragment of POU4F3 exon 2 (nucleotides 629 to 939).
-
-
-
-
28
-
-
0018639079
-
-
Total RNA from human fetal cochlea, brain, and kidney was extracted using the guanidine isothiocyanate method [J. M. Chirgwin, A. E. Przybyla, R. J. MacDonald, W. Rutter, Biochemistry 18, 5294 (1979)]. Total RNA (3 μg) was reverse-transcribed with the SuperScript II kit (Gibco-BRL). Parallel PCR reactions with reverse transcriptase (+RT) and without reverse transcriptase (-RT) were performed to evaluate DNA contamination in RNA samples. Reverse transcriptase (+/-RT) reaction was used as a template for PCR. The following PCR primers spanning the 314-bp intron were used: 48F (5′-TGCAA-GAACCCAAATTCTCC-3′) to 804R (5′-GAGCTCT-GGCTTGCTGTTCT-3′). A 756-bp product was observed in cochlear RNA, corresponding to the cDNA size. Genomic DNA contamination was present in all samples, as shown by the 1070-bp band observed m all lanes (Fig. 2E). PCR reagents including Taq polymerase (Perkin-Elmer) were used according to the manufacturer's instructions.
-
(1979)
Biochemistry
, vol.18
, pp. 5294
-
-
Chirgwin, J.M.1
Przybyla, A.E.2
MacDonald, R.J.3
Rutter, W.4
-
29
-
-
0029025828
-
-
M. Xiang et al., J. Neurosci. 15, 4762 (1995); M. R. Gerrero et al., Proc. Natl. Acad. Sci. U.S.A. 90, 10841 (1993); N. N. Ninkina, G. E. M. Stevens, J. N. Wood, W. D. Richardson, Nucleic Acids Res. 21, 3175 (1993).
-
(1995)
J. Neurosci.
, vol.15
, pp. 4762
-
-
Xiang, M.1
-
30
-
-
0027376760
-
-
M. Xiang et al., J. Neurosci. 15, 4762 (1995); M. R. Gerrero et al., Proc. Natl. Acad. Sci. U.S.A. 90, 10841 (1993); N. N. Ninkina, G. E. M. Stevens, J. N. Wood, W. D. Richardson, Nucleic Acids Res. 21, 3175 (1993).
-
(1993)
Proc. Natl. Acad. Sci. U.S.A.
, vol.90
, pp. 10841
-
-
Gerrero, M.R.1
-
31
-
-
0027237657
-
-
M. Xiang et al., J. Neurosci. 15, 4762 (1995); M. R. Gerrero et al., Proc. Natl. Acad. Sci. U.S.A. 90, 10841 (1993); N. N. Ninkina, G. E. M. Stevens, J. N. Wood, W. D. Richardson, Nucleic Acids Res. 21, 3175 (1993).
-
(1993)
Nucleic Acids Res.
, vol.21
, pp. 3175
-
-
Ninkina, N.N.1
Stevens, G.E.M.2
Wood, J.N.3
Richardson, W.D.4
-
33
-
-
0030973864
-
-
C. A. Gruber, J. M. Rhee, A. Gleiberman, E. E. Turner, Mol. Cell. Biol. 17, 2391 (1997).
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 2391
-
-
Gruber, C.A.1
Rhee, J.M.2
Gleiberman, A.3
Turner, E.E.4
-
34
-
-
0025339078
-
-
H. A. Ingraham et al., Cell 61, 1021 (1990); M. C. Botfield, A. Jancso, M. A. Weiss, Biochemistry 31, 5841 (1992); C. P. Verrijzer et al., EMBO J. 11, 4993 (1992).
-
(1990)
Cell
, vol.61
, pp. 1021
-
-
Ingraham, H.A.1
-
35
-
-
0026635863
-
-
H. A. Ingraham et al., Cell 61, 1021 (1990); M. C. Botfield, A. Jancso, M. A. Weiss, Biochemistry 31, 5841 (1992); C. P. Verrijzer et al., EMBO J. 11, 4993 (1992).
-
(1992)
Biochemistry
, vol.31
, pp. 5841
-
-
Botfield, M.C.1
Jancso, A.2
Weiss, M.A.3
-
36
-
-
0027092288
-
-
H. A. Ingraham et al., Cell 61, 1021 (1990); M. C. Botfield, A. Jancso, M. A. Weiss, Biochemistry 31, 5841 (1992); C. P. Verrijzer et al., EMBO J. 11, 4993 (1992).
-
(1992)
EMBO J.
, vol.11
, pp. 4993
-
-
Verrijzer, C.P.1
-
39
-
-
0028200262
-
-
J. D. Klemm, M. A. Rould, R. Aurora, W. Herr, C. O. Pabo, Cell 77, 21 (1994).
-
(1994)
Cell
, vol.77
, pp. 21
-
-
Klemm, J.D.1
Rould, M.A.2
Aurora, R.3
Herr, W.4
Pabo, C.O.5
-
40
-
-
0030835307
-
-
Alteration of a single residue in the POU homeodomain of Pou4f2 changes this transcription factor from a repressor to an activator of the SNAP-25 promoter; Pou4f3 shares this site with Pou4f2 [P. J. Morris, S. J. Dawson, M. C. Wilson, D. S. Latchman, Neuroreport 8, 2041 (1997)].
-
(1997)
Neuroreport
, vol.8
, pp. 2041
-
-
Morris, P.J.1
Dawson, S.J.2
Wilson, M.C.3
Latchman, D.S.4
-
41
-
-
0029617403
-
-
T. Theil, B. Rodel, F. Spiegelhalter, T. Moroy, J. Biol. Chem. 270, 30958 (1995).
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 30958
-
-
Theil, T.1
Rodel, B.2
Spiegelhalter, F.3
Moroy, T.4
-
43
-
-
7144228978
-
-
note
-
We thank all Family H members for their cooperation and enthusiasm for this study. We thank T. Sobe and S. Haika for assistance; B. Ploplis, M. Idelson, I. Bejerano-Achache, and M. Mastroianni for technical support; B. Bonne-Tamir, A. Adato, and C. Froehlich for critical advice; I. Ashkenazi and Y. Shiloh for generous support; and G. Van Camp for collecting blood from family members living in Belgium. Supported in part by Tel Aviv University (K.B.A.), NIDCD grant R01 DC01076 (M.-C.K. and E.D.L.), and Intramural Research Project grant Z01 DC 00039 (T.B.F. and R.M.).
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