Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3-Reference-Cited by-同舟云学术

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Published:1998-05-29 Issue:5368 Volume:280 Page:1447-1451
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Wang Aihui¹²³⁴⁵,Liang Yong¹²³⁴⁵,Fridell Robert A.¹²³⁴⁵,Probst Frank J.¹²³⁴⁵,Wilcox Edward R.¹²³⁴⁵,Touchman Jeffrey W.¹²³⁴⁵,Morton Cynthia C.¹²³⁴⁵,Morell Robert J.¹²³⁴⁵,Noben-Trauth Konrad¹²³⁴⁵,Camper Sally A.¹²³⁴⁵,Friedman Thomas B.¹²³⁴⁵

Affiliation:

1. A. Wang and Y. Liang, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA, and Graduate Program in Genetics, Michigan State University, East Lansing, MI 48824, USA.

2. R. A. Fridell, E. R. Wilcox, K. Noben-Trauth, R. J. Morell, T. B. Friedman, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

3. F. J. Probst and S. A. Camper, Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

4. J. W. Touchman, NIH Intramural Sequencing Center, National Institutes of Health, Rockville, MD 20850, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

5. C. C. Morton, Departments of Pathology, Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

Abstract

DFNB3 , a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2 . A human unconventional myosin gene, MYO15 , was identified by combining functional and positional cloning approaches in searching for shaker-2 and DFNB3 . MYO15 has at least 50 exons spanning 36 kilobases. Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference38 articles.

1. Nance W. E., Sweeney A., Otolaryngol. Clin. North Am.8, 19 (1975).

2. G. Van Camp and R. J. H. Smith Hereditary Hearing Loss Homepage (January 1998). Available at http://dnalab-www.uia.ac.be/dnalab/hhh/.

3. D. P. Kelsell, et al., Nature 387, 80 (1997); Li X. C., et al., Nature Genet. 18, 215 (1998).

4. Liu X-Z., et al., Nature Genet.16, 188 (1997); D. Weil et al.,ibid., p. 191.

5. Friedman T. B., et al., ibid9, 86 (1995).

Cited by 391 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss;BMC Medical Genomics;2024-01-02

2. Myosin XV is a negative regulator of signaling filopodia during long-range lateral inhibition;Developmental Biology;2024-01

3. Novel Compound Heterozygous MYO15A Splicing Variants in Autosomal Recessive Non-syndromic Hearing Loss;2023-10-03

4. Impact of inner ear malformation and cochlear nerve deficiency on the development of auditory-language network in children with profound sensorineural hearing loss;eLife;2023-09-12

5. Identification of candidate genes for developmental colour agnosia in a single unique family;PLOS ONE;2023-09-06