Isolation and characterization of a candidate gene for Norrie disease.
Previous analysis has refined the location of the gene for Norrie disease, a severe, X-linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome subfragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an evolutionarily conserved cDNA, which is expressed in fetal and adult brain and encodes a predicted protein of 133 amino acids. The cDNA detects genomic sequences which span a maximum of 50 kb, and which are partly deleted in several typical Norrie disease patients. An EcoRI polymorphism with a calculated heterozygosity value of 43% was observed. The locus identified is a strong candidate for the Norrie disease gene.
Chen
Z Y
ZY
Department of Biochemistry, University of Oxford, UK.
Hendriks
R W
RW
Jobling
M A
MA
Powell
J F
JF
Breakefield
X O
XO
Sims
K B
KB
Craig
I W
IW
D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D015825:Chromosomes, Fungal; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D015723:Gene Library; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D014960:X Chromosome
D004247:DNA