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Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Publication ,  Journal Article
Metlapally, R; Michaelides, M; Bulusu, A; Li, Y-J; Schwartz, M; Rosenberg, T; Hunt, DM; Moore, AT; Züchner, S; Rickman, CB; Young, TL
Published in: Invest Ophthalmol Vis Sci
April 2009

PURPOSE: X-linked high myopia with mild cone dysfunction and color vision defects has been mapped to chromosome Xq28 (MYP1 locus). CXorf2/TEX28 is a nested, intercalated gene within the red-green opsin cone pigment gene tandem array on Xq28. The authors investigated whether TEX28 gene alterations were associated with the Xq28-linked myopia phenotype. Genomic DNA from five pedigrees (with high myopia and either protanopia or deuteranopia) that mapped to Xq28 were screened for TEX28 copy number variations (CNVs) and sequence variants. METHODS: To examine for CNVs, ultra-high resolution array-comparative genomic hybridization (array-CGH) assays were performed comparing the subject genomic DNA with control samples (two pairs from two pedigrees). Opsin or TEX28 gene-targeted quantitative real-time gene expression assays (comparative CT method) were performed to validate the array-CGH findings. All exons of TEX28, including intron/exon boundaries, were amplified and sequenced using standard techniques. RESULTS: Array-CGH findings revealed predicted duplications in affected patient samples. Although only three copies of TEX28 were previously reported within the opsin array, quantitative real-time analysis of the TEX28 targeted assay of affected male or carrier female individuals in these pedigrees revealed either fewer (one) or more (four or five) copies than did related and control unaffected individuals. Sequence analysis of TEX28 did not reveal any variants associated with the disease status. CONCLUSIONS: CNVs have been proposed to play a role in disease inheritance and susceptibility as they affect gene dosage. TEX28 gene CNVs appear to be associated with the MYP1 X-linked myopia phenotypes.

Duke Scholars

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

April 2009

Volume

50

Issue

4

Start / End Page

1552 / 1558

Location

United States

Related Subject Headings

  • Reverse Transcriptase Polymerase Chain Reaction
  • Retinal Diseases
  • Retinal Cone Photoreceptor Cells
  • RNA, Messenger
  • Pedigree
  • Opsins
  • Ophthalmology & Optometry
  • Nucleic Acid Hybridization
  • Myopia, Degenerative
  • Membrane Proteins
 

Citation

APA
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ICMJE
MLA
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Metlapally, R., Michaelides, M., Bulusu, A., Li, Y.-J., Schwartz, M., Rosenberg, T., … Young, T. L. (2009). Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Invest Ophthalmol Vis Sci, 50(4), 1552–1558. https://doi.org/10.1167/iovs.08-2455
Metlapally, Ravikanth, Michel Michaelides, Anuradha Bulusu, Yi-Ju Li, Marianne Schwartz, Thomas Rosenberg, David M. Hunt, et al. “Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.Invest Ophthalmol Vis Sci 50, no. 4 (April 2009): 1552–58. https://doi.org/10.1167/iovs.08-2455.
Metlapally R, Michaelides M, Bulusu A, Li Y-J, Schwartz M, Rosenberg T, et al. Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1552–8.
Metlapally, Ravikanth, et al. “Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.Invest Ophthalmol Vis Sci, vol. 50, no. 4, Apr. 2009, pp. 1552–58. Pubmed, doi:10.1167/iovs.08-2455.
Metlapally R, Michaelides M, Bulusu A, Li Y-J, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Züchner S, Rickman CB, Young TL. Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1552–1558.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

April 2009

Volume

50

Issue

4

Start / End Page

1552 / 1558

Location

United States

Related Subject Headings

  • Reverse Transcriptase Polymerase Chain Reaction
  • Retinal Diseases
  • Retinal Cone Photoreceptor Cells
  • RNA, Messenger
  • Pedigree
  • Opsins
  • Ophthalmology & Optometry
  • Nucleic Acid Hybridization
  • Myopia, Degenerative
  • Membrane Proteins