title: A VNTR immediately adjacent to the human pseudoautosomal telomere.
abstract: The probe 29C1 detects a hypervariable locus 18kb from the telomere of the human X and Y chromosomes, in the pseudoautosomal region. Here we report that hypervariability of fragments containing this sequence in the human population arises by loss or gain of a 31 base pair GC rich repeat. Labelled 29C1 does not detect a DNA fingerprint at low stringency, though the consensus repeat sequence does show some similarity to previously reported minisatellites. Sequence within the repeat block has G and C rich strands, a feature associated with sequences at the telomeres of many higher organisms. The repeat block shows sequence characteristics normally associated with a low methylation island, though the locus is methylated and does not appear to be transcribed.
authors.affiliation: Department of Human Genetics, Newcastle University, UK.
authors.forename: C F
authors.initials: CF
authors.lastname: Inglehearn
authors.forename: H J
authors.initials: HJ
authors.lastname: Cooke
mesh_terms: D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D003360:Cosmids; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D014644:Genetic Variation; D006801:Humans; D006822:Hybrid Cells; D051379:Mice; D008969:Molecular Sequence Data; D012091:Repetitive Sequences, Nucleic Acid; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity; D014960:X Chromosome / Q000648:ultrastructure*; D014998:Y Chromosome / Q000648:ultrastructure*
chemical_list: D004247:DNA; D004262:DNA Restriction Enzymes