Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick

Mamm Genome. 2005 Oct;16(10):815-24. doi: 10.1007/s00335-005-0018-y. Epub 2005 Oct 29.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Chickens / genetics*
  • Cloning, Molecular
  • Gene Expression
  • Genetic Diseases, X-Linked / genetics
  • Genetic Variation
  • Humans
  • In Situ Hybridization
  • Molecular Sequence Data
  • Night Blindness / genetics*
  • Proteoglycans / genetics*
  • Proteoglycans / isolation & purification
  • Proteoglycans / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / isolation & purification
  • RNA, Messenger / metabolism
  • Retina / chemistry*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Alignment

Substances

  • NYX protein, human
  • Proteoglycans
  • RNA, Messenger