title: Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick.
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.
authors.affiliation: Department of Medical Genetics, Population Genomics Research Group, Faculty of Medicine, University of Calgary, 3330 Hospital Drive, N.W., Calgary, Alberta, T2N 4N1, Canada. ntbech@ucalgary.ca
authors.forename: N Torben
authors.initials: NT
authors.lastname: Bech-Hansen
authors.forename: Josh
authors.initials: J
authors.lastname: Cockfield
authors.forename: Dan
authors.initials: D
authors.lastname: Liu
authors.forename: C Cairine
authors.initials: CC
authors.lastname: Logan
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002645:Chickens / Q000235:genetics*; D003001:Cloning, Molecular; D015870:Gene Expression; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D017403:In Situ Hybridization; D008969:Molecular Sequence Data; D009755:Night Blindness / Q000235:genetics*; D011509:Proteoglycans / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000302:isolation & purification / Q000378:metabolism; D012160:Retina / Q000737:chemistry*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment
chemical_list: C416505:NYX protein, human; D011509:Proteoglycans; D012333:RNA, Messenger