Abstract
By homologous EST searching and nested PCR a new human geneGJB5 encoding gap junction protein β-5 was identified.GJB5 was genetically mapped to human chromosome 1p33-p35 by FISH. RT-PCR revealed that it was expressed in skin, placenta and fetal skin. DNA sequencing ofGJB5 was carried out in 142 patients with sensorineural hearing impairment and probands of 36 families with genetic diseases, including erythrokeratodermia (5 families), Charcot-Marie-Tooth disease (13), ptosis (4), and retinitis pigmentosa and deafness (14). Two missense mutations (686A→G, H229R; 25C→T, L9F) were detected in two sensorineural hearing impairment families. A heterologous deletion of 18 bp within intron was found in 3 families with heredity hearing impairment, and in one of the 3 families, a missense mutation (R265P) was identified also. But the deletion and missense mutation seemed not segregating with hearing impairment in the family. No abnormal mRNA or mRNA expression was detected in deletion carriers by RT-PCR analysis in skin tissue. Mutation analysis in 199 unaffected individuals revealed that two of them were carriers with the same 18 bp deletion.
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Bergoffen, J., Scherer, S. S., Wang, S. et al., Connexin mutations in X-linked Charcot -Marie-Tooth disease, Science, 1993,262: 2039Y.
Britz-Cunningham, S. H., Shah, M. M., Zuppan, C. W. et al., Mutations of the connexin43 gap junction gene in patients with heart malformations and defects of laterality, New England J. Med., 1995,332: 1323.
Shiels, A., Mackay, D., Ionides, A. et al., A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1q, Am. J. Hum. Genet., 1998,62: 526.
Kelsell, D. P., Dunlop, J., Stevens, H. P. et al., Connexin 26 mutations in heredity non-syndromic sensorineural deafness, Nature, 1997,387: 80.
Zelante, L., Gasparinip, P., Estivill, X. et al., Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans, Hum. Mol. Genet., 1997,6{(sn9)}: 1605.
Denoyelle, F., Lina-Granade, G., Plauchu, H. et al., Connexin 26 gene linked to a dominant deafness, Nature, 1998,393)(6683: 319.
Xia, J. H., Liu, C. Y., Tang, B. S. et al., Mutations in the gene encoding gap junction protein 3 associated with autosomal dominant hearing impairment, Nat. Genetics, 1998,20: 370.
Richard, G., Smith, L. E., Bailey, R. A. et al., Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis, Nature Genetics, 1998,20: 366.
Richard, G., Andreoli, J. M., Smith, L. E. et al., Characterization and gene mapping of two human connexins expressed in epidermis (abstract), Mol. Biol. Cell, 1997,8(suppl): 95a.
Keirut, W., Dieter, M., Klaus, W. et al., Human gap junction protein connexin31: molecular cloning and expression analysis, Biochem. Biophys. Res. Com., 1998,248: 910.
Neuhaus, I. M., Bone, L., Wang, S. et al., The human connexin32 gene is transcribed from two tissue-specific promotors, Biosci. Rep., 1996,16(3): 239.
Lanford, C. J., Gallwitz, D., Evidence for an intron-contained sequence required for the splicing of yeast RNA polymerase II transcripts, Cell, 1983,33: 519.
Wang, D. G., Fan, J. B., Slao, C. J. et al., Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome, Science, 1998,280: 1077.
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Xia, J., Zheng, D., Tang, D. et al. Cloning, mapping and mutation analysis of human geneGJB5 encoding gap junction protein β-5. Sci. China Ser. C.-Life Sci. 44, 92–98 (2001). https://doi.org/10.1007/BF02882077
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DOI: https://doi.org/10.1007/BF02882077