title: Molecular analysis of a novel subtelomeric repeat with polymorphic chromosomal distribution.
abstract: DNA from a 50-kb yeast artificial chromosome (YAC) containing one human telomere was characterized. Cloned sequences from the centromeric end of this YAC (designated yRM2001) localized to several human chromosomes by somatic hybrid panel mapping. The telomeric end of the YAC contained both (TTAGGG)n sequences and the previously characterized TelBam3.4 subterminal repeat element. A novel low-copy repeat element (designated HC1103) mapped 19 kb from the telomeric end of the YAC. This repeat was shown by fluorescence in situ hybridization to be present in several subtelomeric regions (3q, 12p, 15q, 19p, and 20p) and at an interstitial site (2q13-->q14) in all individuals studied, but to be polymorphically distributed at several other telomeres. The YAC vector-insert EcoRI cloning site was positioned 50 kb to 70 kb from chromosome termini in human genomic DNA using RecA-assisted restriction endonuclease (RARE) cleavage analysis. Our results suggest that the DNA segment cloned in yRM2001 contains a novel block of low-copy DNA consistently present at some human telomeres, but polymorphically distributed at others.
authors.affiliation: Lawrence Livermore National Laboratory, Livermore CA, USA.
authors.forename: A
authors.initials: A
authors.lastname: Martin-Gallardo
authors.forename: J
authors.initials: J
authors.lastname: Lamerdin
authors.forename: P
authors.initials: P
authors.lastname: Sopapan
authors.forename: C
authors.initials: C
authors.lastname: Friedman
authors.forename: A L
authors.initials: AL
authors.lastname: Fertitta
authors.forename: E
authors.initials: E
authors.lastname: Garcia
authors.forename: A
authors.initials: A
authors.lastname: Carrano
authors.forename: D
authors.initials: D
authors.lastname: Negorev
authors.forename: R A
authors.initials: RA
authors.lastname: Macina
authors.forename: B J
authors.initials: BJ
authors.lastname: Trask
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002877:Chromosomes, Human; D017931:DNA Primers; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D016615:Telomere
chemical_list: D017931:DNA Primers