Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats

J Mol Biol. 1995 Mar 31;247(3):418-27. doi: 10.1006/jmbi.1994.0150.


Newly isolated members of two recently propagated (young) Alu subfamilies were examined for sequence diversity and insertion polymorphism in primate genomes. The smaller subfamily (termed HS-2) is comprised of approximately 5 to 25 members, while the larger (termed Sb2) includes approximately 125 to 600 members. Individual members of these Alu subfamilies share distinguishing sets of diagnostic mutations, are well-conserved relative to each other, and have expanded in the human lineage. At least one member from each subfamily is known to be polymorphic in humans. Three newly characterized HS-2 Alu family members as well as three Sb2 Alu repeats are monomorphic (fixed) in humans. The existence of a number of Alu subfamilies that have amplified in parallel within the human genome provides compelling evidence for the simultaneous activity of multiple dispersed Alu source genes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Base Sequence
  • Cell Line
  • Chromosome Mapping
  • Consensus Sequence
  • Gene Amplification
  • Gene Frequency
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Phylogeny
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Primates / genetics
  • Repetitive Sequences, Nucleic Acid*
  • Rodentia
  • Sequence Alignment
  • Sequence Homology, Nucleic Acid

Associated data

  • GENBANK/U02507
  • GENBANK/U02531
  • GENBANK/U02532
  • GENBANK/U12580
  • GENBANK/U12581
  • GENBANK/U12582
  • GENBANK/U12583
  • GENBANK/U12584
  • GENBANK/U18389
  • GENBANK/U18396
  • GENBANK/U18443
  • GENBANK/U18444
  • GENBANK/U18446
  • GENBANK/U23939
  • GENBANK/U24130
  • GENBANK/U24131
  • GENBANK/U24132
  • GENBANK/U24133
  • GENBANK/U24134
  • GENBANK/U24135
  • GENBANK/U24136
  • GENBANK/U24137
  • GENBANK/U24138
  • GENBANK/U24139
  • GENBANK/U24140
  • GENBANK/U24141
  • GENBANK/U24142