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

Ravikanth Metlapally, Michel Michaelides, Anuradha Bulusu, Yi Ju Li, Marianne Schwartz, Thomas Rosenberg, David M. Hunt, Anthony T. Moore, Stephan L Zuchner, Catherine Bowes Rickman, Terri L. Young

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1552-1558
Number of pages7
JournalInvestigative Ophthalmology and Visual Science
Volume50
Issue number4
DOIs
StatePublished - Apr 1 2009
Externally publishedYes

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Color Vision Defects
Myopia
Pedigree
Opsins
Comparative Genomic Hybridization
Gene Dosage
Nested Genes
Exons
Genes
Phenotype
DNA
Disease Susceptibility
Introns
Sequence Analysis
Chromosomes
Gene Expression
Myopia 1

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience
  • Medicine(all)

Cite this

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. Investigative Ophthalmology and Visual Science, 50(4), 1552-1558. https://doi.org/10.1167/iovs.08-2455

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. / Metlapally, Ravikanth; Michaelides, Michel; Bulusu, Anuradha; Li, Yi Ju; Schwartz, Marianne; Rosenberg, Thomas; Hunt, David M.; Moore, Anthony T.; Zuchner, Stephan L; Rickman, Catherine Bowes; Young, Terri L.

In: Investigative Ophthalmology and Visual Science, Vol. 50, No. 4, 01.04.2009, p. 1552-1558.

Research output: Contribution to journalArticle

Metlapally, R, Michaelides, M, Bulusu, A, Li, YJ, Schwartz, M, Rosenberg, T, Hunt, DM, Moore, AT, Zuchner, SL, Rickman, CB & Young, TL 2009, 'Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies', Investigative Ophthalmology and Visual Science, vol. 50, no. 4, pp. 1552-1558. https://doi.org/10.1167/iovs.08-2455
Metlapally, Ravikanth ; Michaelides, Michel ; Bulusu, Anuradha ; Li, Yi Ju ; Schwartz, Marianne ; Rosenberg, Thomas ; Hunt, David M. ; Moore, Anthony T. ; Zuchner, Stephan L ; Rickman, Catherine Bowes ; Young, Terri L. / Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. In: Investigative Ophthalmology and Visual Science. 2009 ; Vol. 50, No. 4. pp. 1552-1558.
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abstract = "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.",
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AU - Metlapally, Ravikanth

AU - Michaelides, Michel

AU - Bulusu, Anuradha

AU - Li, Yi Ju

AU - Schwartz, Marianne

AU - Rosenberg, Thomas

AU - Hunt, David M.

AU - Moore, Anthony T.

AU - Zuchner, Stephan L

AU - Rickman, Catherine Bowes

AU - Young, Terri L.

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N2 - 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.

AB - 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.

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