1. Schematic drawing of the human X chromosome and physical map the Xp interval carrying the ND gene. A 640-kb yeast artificial chromosome (YAC) clone was isolated containing DXS7 and the MAO genes, which had been shown previously to flank the ND locus. A cosmid contig was constructed in the respective region, and several clones from this contig (A10, G8, and M8) detected small deletions in ND patients (open bars). The cosmids were then used for isolation of complementary DNA clones, and alignment of cDNA and genomic sequence data established the exon-intron structure of the ND gene. The gene consists of three exons interrupted by two introns of 15 and 9 kb, respectively. The open reading frame (ORF) is contained entirely within exons 2 and 3 and codes for a polypeptide of 133 amino acids (black bars). The orientation of the genes is indicated by arrows below the boxes representing the ND and MAO genes.
Source: Norrie Disease, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 26, 2017
Copyright © 2017 McGraw-Hill Education. All rights reserved