title: Transposition, amplification, and divergence in the origin of the DNF15 loci, a polymorphic repetitive sequence family on chromosomes 1 and 3.
abstract: The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to the several members on chromosome 1 by transposition, partial duplication, and amplification. Several restriction fragment length polymorphisms have been discovered at the DNF15S1 locus and these have been assigned to the different subfamilies of the repeat at this locus. The existence of these RFLPs, and the nonallelic restriction site variation also found in this sequence family, suggests that transposition and amplification occurred as discrete events. We sequenced across the ancient junction between chromosomes 1 and 3 and noted features which might explain the mechanics of the transposition and amplification events.
authors.affiliation: MRC Human Biochemical Genetics Unit, University College London, United Kingdom.
authors.forename: H M
authors.initials: HM
authors.lastname: Welch
authors.forename: J K
authors.initials: JK
authors.lastname: Darby
authors.forename: A J
authors.initials: AJ
authors.lastname: Pilz
authors.forename: C M
authors.initials: CM
authors.lastname: Ko
authors.forename: B
authors.initials: B
authors.lastname: Carritt
mesh_terms: D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D002893:Chromosomes, Human, Pair 3; D003720:Densitometry; D005784:Gene Amplification; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D009690:Nucleic Acid Conformation; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid