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Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia.

Publication ,  Journal Article
Scavello, GS; Paluru, PC; Ganter, WR; Young, TL
Published in: Invest Ophthalmol Vis Sci
July 2004

PURPOSE: High myopia is a common complex-trait eye disorder, with implications for blindness due to increased risk of retinal detachment, macular degeneration, premature cataracts, and glaucoma. Mapping studies have identified at least four loci for nonsyndromic autosomal dominant high myopia at 18p11.31, 12q22-q23, 17q21-q23, and 7q36. The smallest haplotyped interval for these loci is that of the MYP2 locus on 18p11.31. Recently, the transforming growth beta-induced factor (TGIF) gene was reported to be a candidate gene for MYP2-associated high myopia in single-nucleotide polymorphism studies. The purpose of this study was to determine whether DNA sequence variants in the human TGIF gene are causally related to MYP2-associated high myopia. METHODS: The protein coding regions and intron-exon boundaries of the human TGIF gene were sequenced using genomic DNA samples from MYP2 individuals (affected, unaffected) and external control subjects. The TGIF model used was the April 20, 2003, human genome National Center for Biotechnology Information (NCBI) build 33, which has 10 exons and encodes eight transcript variants. Polymorphic sequence changes were compared to those in the previous report. Reverse-transcription polymerase chain reaction (RT-PCR) was performed to validate TGIF gene expression in ocular tissues. RESULTS: A total of 21 polymorphisms of TGIF were found by direct sequencing: 3 were missense, 2 were silent, 10 were not translated, 4 were intronic, and 2 were homozygous deletions. The 3 missense allelic variants were localized to exon 10 at positions 236C-->T(Pro-->Leu), 244C-->T(Pro-->Ser), and 245C-->T(Pro-->Leu). Silent mutations were observed in exon 10 at positions 177A-->G, 333C-->T. Ten polymorphisms were novel. No sequence alterations were exclusively associated with the affected disease phenotype. RT-PCR results confirmed expression of TGIF in RNA samples derived from human sclera, cornea, optic nerve, and retina. CONCLUSIONS: TGIF is a known candidate gene for MYP2-associated high myopia, based on its mapped location within the MYP2 interval. Mutation analysis of the encoded TGIF gene for MYP2 autosomal dominant high myopia did not identify sequence alterations associated with the disease phenotype. Further studies of MYP2 candidate genes are needed to determine the gene that causes of this potentially blinding disorder.

Duke Scholars

Published In

Invest Ophthalmol Vis Sci

DOI

ISSN

0146-0404

Publication Date

July 2004

Volume

45

Issue

7

Start / End Page

2091 / 2097

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Reverse Transcriptase Polymerase Chain Reaction
  • Repressor Proteins
  • Polymorphism, Genetic
  • Ophthalmology & Optometry
  • Myopia
  • Humans
  • Homeodomain Proteins
  • Genetic Variation
  • DNA Mutational Analysis
 

Citation

APA
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ICMJE
MLA
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Scavello, G. S., Paluru, P. C., Ganter, W. R., & Young, T. L. (2004). Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. Invest Ophthalmol Vis Sci, 45(7), 2091–2097. https://doi.org/10.1167/iovs.03-0933
Scavello, Genaro S., Prasuna C. Paluru, William R. Ganter, and Terri L. Young. “Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia.Invest Ophthalmol Vis Sci 45, no. 7 (July 2004): 2091–97. https://doi.org/10.1167/iovs.03-0933.
Scavello GS, Paluru PC, Ganter WR, Young TL. Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2091–7.
Scavello, Genaro S., et al. “Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia.Invest Ophthalmol Vis Sci, vol. 45, no. 7, July 2004, pp. 2091–97. Pubmed, doi:10.1167/iovs.03-0933.
Scavello GS, Paluru PC, Ganter WR, Young TL. Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2091–2097.

Published In

Invest Ophthalmol Vis Sci

DOI

ISSN

0146-0404

Publication Date

July 2004

Volume

45

Issue

7

Start / End Page

2091 / 2097

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Reverse Transcriptase Polymerase Chain Reaction
  • Repressor Proteins
  • Polymorphism, Genetic
  • Ophthalmology & Optometry
  • Myopia
  • Humans
  • Homeodomain Proteins
  • Genetic Variation
  • DNA Mutational Analysis