PMID: 8938432Nov 1, 1996Paper

Alu fossil relics--distribution and insertion polymorphism

Genome Research
S S ArcotM A Batzer

Abstract

Screening of a human genomic library with an oligonucleotide probe specific for one of the young subfamilies of Alu repeats (Ya5/8) resulted in the identification of several hundred positive clones. Thirty-three of these clones were analyzed in detail by DNA sequencing. Oligonucleotide primers complementary to the unique sequence regions flanking each Alu repeat were used in PCR-based assays to perform phylogenetic analyses, chromosomal localization, and insertion polymorphism analyses within different human population groups. All 33 Alu repeats were present only in humans and absent from orthologous positions in several nonhuman primate genomes. Seven Alu repeats were polymorphic for their presence/absence in three different human population groups, making them novel identical-by-descent markers for the analysis of human genetic diversity and evolution. Nucleotide sequence analysis of the polymorphic Alu repeats showed an extremely low nucleotide diversity compared with the subfamily consensus sequence with an average age of 1.63 million years old. The young Alu insertions do not appear to accumulate preferentially on any individual human chromosome.

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Citations

Oct 1, 2010·Journal of Human Genetics·Wifak El MoncerHassen Chaabani
Feb 24, 2005·BMC Evolutionary Biology·Abdel-Halim SalemMark A Batzer
Oct 17, 2003·Proceedings of the National Academy of Sciences of the United States of America·Abdel-Halim SalemMark A Batzer
Sep 20, 2012·Annals of Human Biology·B P KeeL H Lian
May 11, 2006·Annals of Human Biology·Jaqueline BattilanaSandro L Bonatto
Jan 31, 2013·Annals of Human Biology·Naris PojskicRifat Hadziselimovic
Oct 1, 2011·American Journal of Human Biology : the Official Journal of the Human Biology Council·Luis Gómez-PérezJosé A Peña
Aug 18, 2004·Journal of Molecular Biology·Anthony C OtienoMark A Batzer
Feb 17, 2001·American Journal of Human Genetics·W S WatkinsL B Jorde
Aug 28, 1998·Journal of Molecular Biology·S S ArcotM A Batzer
May 16, 2017·Annals of Human Biology·Martina ČížkováViktor Černý
Jun 24, 2004·American Journal of Human Biology : the Official Journal of the Human Biology Council·C L DornellesF M Salzano
May 4, 2002·Nature Reviews. Genetics·Mark A Batzer, Prescott L Deininger

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