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The human gene for gammaS-crystallin: alternative transcripts and expressed sequences from the first intron
1Section on Molecular Structure and Function, National Eye Institute, National Institutes of Health, Bethesda, MD 20892-2740, USA. graeme@helix.nih.gov
Molecular Vision
|June 6, 2000
Summary
GammaS-crystallins are abundant in the adult human lens. Alternative polyadenylation creates two transcripts, but cryptic splicing may yield defective proteins, potentially harming the adult human lens.
Area of Science:
- Ophthalmology
- Molecular Biology
- Genetics
Background:
- GammaS-crystallins are key structural proteins in the adult vertebrate lens.
- Understanding their gene expression and regulation is crucial for lens biology.
Purpose of the Study:
- To investigate the population of gammaS transcripts in the adult human lens.
- To elucidate the structural organization of the human CRYGS gene.
Main Methods:
- Expressed Sequence Tag (EST) analysis of human eye tissues from NEIBANK.
- Isolation and sequencing of the human CRYGS gene using PAC clone and PCR-based methods.
Main Results:
- GammaS is a highly abundant transcript in the adult human lens.
- Two transcript sizes arise from alternative polyadenylation signals (AATAAA and ATTAAA).
- A novel insert from intron 1, part of a cluster of unidentified transcripts, was found in one cDNA clone, disrupting the open reading frame.
Conclusions:
- The human CRYGS gene produces at least two transcripts via alternative polyadenylation.
- A minor transcript involves alternative splicing into intron 1 sequences, linked to a non-lens transcription unit (Mys).
- Cryptic splicing of CRYGS may lead to a defective protein, potentially detrimental to the adult human lens.