The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)

Philip M. Kelley, Mike D. Weston, Zheng Yi Chen, Dana J. Orten, Tama Hasson, Larry D. Overbeck, Jeff Pinnt, Catherine B. Talmadge, Paul Ing, Mark S. Mooseker, David Corey, Janos Sumegi, William J. Kimberling

Research output: Contribution to journalArticle

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Abstract

Usher syndrome type Ib is a recessive autosomal disorder manifested by congenital deafness, vestibular dysfunction, and progressive retinal degeneration. Mutations in the human myosin VIIa gene (MYO7A) have been reported to cause Usher type Ib. Here we report the genomic organization of MYO7A. An STS content map was determined to discover the YAC clones that would cover the critical region for Usher syndrome type Ib. Three of the YACs (802A5, 966D6, and 965F10) were subcloned into cosmids and used to assemble a preliminary cosmid contig of the critical region. Part of the gene encoding human myosin VIIa was found in the preliminary cosmid contig. A cosmid, P1, PAC, and long PCR contig that contained the entire MYO7A gene was assembled. Primers were designed from the composite cDNA sequence and used to detect intron-exon junctions by directly sequencing cosmid, P1, PAC, and genomic PCR DNA. Alternatively spliced products were transcribed from the MYO7A gene: the largest transcript (7.4 kb) contains 49 exons. The MYO7A gene is relatively large, spanning approximately 120 kb of genomic DNA on chromosome 11q13.

Original languageEnglish (US)
Pages (from-to)73-79
Number of pages7
JournalGenomics
Volume40
Issue number1
DOIs
StatePublished - Feb 15 1997

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Cosmids
Genes
Exons
Usher Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Polymerase Chain Reaction
Retinal Degeneration
DNA
Deafness
Introns
Complementary DNA
Clone Cells
Chromosomes
Type Ib Usher Syndrome
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

Kelley, P. M., Weston, M. D., Chen, Z. Y., Orten, D. J., Hasson, T., Overbeck, L. D., ... Kimberling, W. J. (1997). The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). Genomics, 40(1), 73-79. https://doi.org/10.1006/geno.1996.4545

The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). / Kelley, Philip M.; Weston, Mike D.; Chen, Zheng Yi; Orten, Dana J.; Hasson, Tama; Overbeck, Larry D.; Pinnt, Jeff; Talmadge, Catherine B.; Ing, Paul; Mooseker, Mark S.; Corey, David; Sumegi, Janos; Kimberling, William J.

In: Genomics, Vol. 40, No. 1, 15.02.1997, p. 73-79.

Research output: Contribution to journalArticle

Kelley, PM, Weston, MD, Chen, ZY, Orten, DJ, Hasson, T, Overbeck, LD, Pinnt, J, Talmadge, CB, Ing, P, Mooseker, MS, Corey, D, Sumegi, J & Kimberling, WJ 1997, 'The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)', Genomics, vol. 40, no. 1, pp. 73-79. https://doi.org/10.1006/geno.1996.4545
Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD et al. The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). Genomics. 1997 Feb 15;40(1):73-79. https://doi.org/10.1006/geno.1996.4545
Kelley, Philip M. ; Weston, Mike D. ; Chen, Zheng Yi ; Orten, Dana J. ; Hasson, Tama ; Overbeck, Larry D. ; Pinnt, Jeff ; Talmadge, Catherine B. ; Ing, Paul ; Mooseker, Mark S. ; Corey, David ; Sumegi, Janos ; Kimberling, William J. / The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). In: Genomics. 1997 ; Vol. 40, No. 1. pp. 73-79.
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