title: A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes.
abstract: By using cosmid walking, we have cloned a 195-kb region from chromosome band Xq28 that encompasses the red and green color pigment genes and 85 kb of flanking sequences. This has allowed us to confirm that the color pigment genes are within very homologous units arranged in tandem array. Each unit contains two BssHII sites and one NruI site that are frequently methylated in male leukocyte DNA. A NotI and an EagI site are present 6 kb upstream from the red pigment gene promoter; the NotI site was shown to be unmethylated in the active X chromosome in leukocytes and may represent a CpG island for the whole cluster. We have identified another CpG island, 61 kb 3' from the last green pigment gene, that is unmethylated in leukocytes on the active X chromosome, but methylated on the inactive X. This island is flanked by sequences conserved in evolution and may thus correspond to an expressed gene. We also describe an informative three-allele restriction fragment length polymorphism within the pigment gene cluster.
authors.affiliation: Unité 184 de Biologie Moléculaire et de Génie Génétique de l'INSERM, Institut de Chimie Biologique, Faculté de Médecine, Strasbourg, France.
authors.forename: R
authors.initials: R
authors.lastname: Feil
authors.forename: P
authors.initials: P
authors.lastname: Aubourg
authors.forename: R
authors.initials: R
authors.lastname: Heilig
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
mesh_terms: D005075:Biological Evolution; D015139:Blotting, Southern; D003001:Cloning, Molecular; D003118:Color Perception / Q000235:genetics*; D003360:Cosmids; D004247:DNA / Q000378:metabolism; D015226:Dinucleoside Phosphates / Q000235:genetics; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D008745:Methylation; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D012168:Retinal Pigments / Q000235:genetics*; D014960:X Chromosome
chemical_list: D004247:DNA; D015226:Dinucleoside Phosphates; D012168:Retinal Pigments; C015772:CpG dinucleotide