Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans

D. J. Orten, M. D. Weston, P. M. Kelley, C. W. Cremers, M. Wagenaar, S. G. Jacobson, W. J. Kimberling

Research output: Contribution to journalArticle

Abstract

Usher syndromeIb (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by congenital profound hearing loss, vestibular abnormalities and retinitis pigmentosa. Promoter elements in the 5 kb upstream of the translation start were identified using adult retinal pigment epithelium cells (ARPE-19) as a model system. A 160 bp minimal promoter within the first intron was active in ARPE-19 cells, but not in HeLa cells that do not express MYO7A. A 100 bp sequence, 5' of the first exon, and repeated with 90% homology within the first intron, appeared to modulate expression in both cell lines. Segments containing these elements were screened by heteroduplex analysis. No heteroduplexes were detected in the minimal promoter, suggesting that this sequence is conserved. A -2568 A>T transversion in the 5' 100 bp repeat, eliminating a CCAAT element, was found only in USH1B patients. However, in all 5 families, -2568 A>T was in cis with the same missense mutation in the myosin VIIa tail (Arg1240Gln), and 4 of the 5 families were Dutch. These observations suggest either 1) linkage disequilibrium or 2)that a combination of a promoter mutation with a less active myosin VIIa protein results in USH1B.

Original languageEnglish (US)
Pages (from-to)114-115
Number of pages2
JournalHuman mutation
Volume15
Issue number1
DOIs
StatePublished - Jan 2000
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Orten, D. J., Weston, M. D., Kelley, P. M., Cremers, C. W., Wagenaar, M., Jacobson, S. G., & Kimberling, W. J. (2000). Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans. Human mutation, 15(1), 114-115. https://doi.org/10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU21>3.0.CO;2-4