Characterization and comparison of the human and mouse GLC1A glaucoma genes

John H Fingert; Lihua Ying; Ruth E Swiderski; Arne M Nystuen; Nancy C Arbour; Wallace L M Alward; Val C Sheffield; Edwin M Stone

doi:10.1101/gr.8.4.377

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Characterization and comparison of the human and mouse GLC1A glaucoma genes

Journal article

Open access

Peer reviewed

Characterization and comparison of the human and mouse GLC1A glaucoma genes

John H Fingert, Lihua Ying, Ruth E Swiderski, Arne M Nystuen, Nancy C Arbour, Wallace L M Alward, Val C Sheffield and Edwin M Stone

Genome research, Vol.8(4), pp.377-384

04/1998

DOI: 10.1101/gr.8.4.377

PMID: 9548973

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Abstract

The GLC1A gene (which encodes the protein myocilin) has been associated with the development of primary open angle glaucoma. Bacterial artificial chromosomes containing the human GLC1A gene and its mouse ortholog were subcloned and sequenced to reveal the genomic structure of the genes. Comparison of the coding sequences of the human and mouse GLC1A genes revealed a high degree of amino acid homology (82%) and the presence of several conserved motifs in the predicted GLC1A proteins. The expression of GLC1A was examined by Northern blot analysis of RNA from adult human tissues. GLC1A expression was observed in 17 of 23 tissues tested, suggesting a wider range of expression than was recognized previously. The comparison of the human and mouse GLC1A genes suggests that the mouse may be a useful model organism in studying the molecular pathophysiology of glaucoma.

Gene Expression

Cytoskeletal Proteins

Glycoproteins - genetics

Amino Acid Sequence

Exons

Glaucoma, Open-Angle - genetics

Introns

Humans

Molecular Sequence Data

Eye Proteins - analysis

Glycoproteins - biosynthesis

Organ Specificity - genetics

Animals

Base Sequence

Conserved Sequence

Amino Acid Substitution - genetics

Mice

Eye Proteins - genetics

Glycoproteins - analysis

Eye Proteins - biosynthesis

Details

Title: Subtitle: Characterization and comparison of the human and mouse GLC1A glaucoma genes
Creators: John H Fingert - Department of Ophthalmology, University of Iowa, Iowa City, Iowa 52242, USA
Lihua Ying
Ruth E Swiderski
Arne M Nystuen
Nancy C Arbour
Wallace L M Alward
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Genome research, Vol.8(4), pp.377-384
DOI: 10.1101/gr.8.4.377
PMID: 9548973
NLM abbreviation: Genome Res
ISSN: 1088-9051
eISSN: 1549-5469
Publisher: United States
Grant note: EY08905 / NEI NIH HHS EY10564 / NEI NIH HHS EY02477 / NEI NIH HHS T32 GM007337 / NIGMS NIH HHS R01 EY010564 / NEI NIH HHS P30 EY002162 / NEI NIH HHS
Language: English
Date published: 04/1998
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980014902771

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