Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick.
Mamm Genome
; 16(10): 815-24, 2005 Oct.
Article
in En
| MEDLINE
| ID: mdl-16261423
ABSTRACT
We describe the isolation and molecular characterization of the chick ortholog of nyctalopin (NYX), the gene responsible for X-linked complete congenital stationary night blindness (CSNB1, also known as cCSNB). Chick Nyx (cNyx) comprises four exons spanning approximately 6.2 kb on Chromosome 1 and encodes a protein of 473 amino acids that shares 55% identity overall with its human counterpart. cNyx is expressed in both the developing and the fully differentiated retina. Transcripts are localized primarily to cells within the outer half of the inner nuclear layer (INL) and the ganglion cell layer (GCL), a pattern consistent with the principal electrophysiologic findings in CSNB1 that suggest a main defect in depolarizing ON-bipolar cells normally located in the outer half of the INL. Expression (albeit weaker) was also detected in the cerebrum and cerebellum and in non-neuronal tissues. Finally, we also report the identification of three novel splice variants, one of which predominates in the retina.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Proteoglycans
/
Retina
/
Chickens
/
Night Blindness
Type of study:
Prognostic_studies
Limits:
Animals
/
Humans
Language:
En
Journal:
Mamm Genome
Journal subject:
GENETICA
Year:
2005
Document type:
Article
Affiliation country:
Canada