1999
DOI: 10.1006/geno.1999.5976
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Characterization of the Human and Mouse Unconventional Myosin XV Genes Responsible for Hereditary Deafness DFNB3 and Shaker 2

Abstract: Mutations in myosin XV are responsible for congenital profound deafness DFNB3 in humans and deafness and vestibular defects in shaker 2 mice. By combining direct cDNA analyses with a comparison of 95.2 kb of genomic DNA sequence from human chromosome 17p11.2 and 88.4 kb from the homologous region on mouse chromosome 11, we have determined the genomic and mRNA structures of the human (MYO15) and mouse (Myo15) myosin XV genes. Our results indicate that full-length myosin XV transcripts contain 66 exons, are >12 … Show more

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Cited by 154 publications
(143 citation statements)
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“…The Jerker mouse, Ames waltzer, Shaker 1, waltzer, Shaker 2 and Snell's waltzer have mutations identified in espin, protocadherin15, myosinVIIa, cadherin23, myosin XVa and myosinVI respectively (Wang et al, 1998;Liang et al, 1999;Anderson et al, 2000;Zheng et al, 2000;Holme and Steel, 2002;Karolyi at al., 2003;Siemens et al, 2004). All of these mutant mice have disorganized stereocilia in the hair cells of the organ of Corti, but the Jerker mouse and Ames waltzer mouse also have shortened stereocilia in the vestibular tissues (Zheng et al, 2000;Raphael et al, 2001).…”
Section: Discussionmentioning
confidence: 99%
“…The Jerker mouse, Ames waltzer, Shaker 1, waltzer, Shaker 2 and Snell's waltzer have mutations identified in espin, protocadherin15, myosinVIIa, cadherin23, myosin XVa and myosinVI respectively (Wang et al, 1998;Liang et al, 1999;Anderson et al, 2000;Zheng et al, 2000;Holme and Steel, 2002;Karolyi at al., 2003;Siemens et al, 2004). All of these mutant mice have disorganized stereocilia in the hair cells of the organ of Corti, but the Jerker mouse and Ames waltzer mouse also have shortened stereocilia in the vestibular tissues (Zheng et al, 2000;Raphael et al, 2001).…”
Section: Discussionmentioning
confidence: 99%
“…Moreover, these methods are adversely affected by sequencing errors and by interruptions in the sequence, which is a serious deficiency for analysis of "working draft" sequences. Utilizing interspecies alignments can improve the accuracy of exon assignments (Jang et al 1999;Liang et al 1999), and Bouck et al (1998) show that this technique is effective when applied to working draft sequences.…”
mentioning
confidence: 99%
“…Analysis of expression of mouse tissue cDNA detected an mRNA transcript of myosins 1a, 1b, 1c, 1d, 1e, 1f, 1h, 3a, 3b, 5a, 6, 7a, 7b, 10, 15a, 16 and 18a [11][12][13][14]. Of these, at least 6 myosins are essential for hearing, as mutations in the genes MYO1A, MYO2A, MYO2B, MYO6, MYO7A and MYO15A cause deafness in humans and mice [14,15,16].…”
Section: Discussionmentioning
confidence: 99%