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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
LINE-1 preTa elements in the human genome
Journal of Molecular Biology, Volume 326, No. 4, Year 2003
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Description
The preTa subfamily of long interspersed elements (LINEs) is characterized by a three base-pair "ACG" sequence in the 3′ untranslated region, contains approximately 400 members in the human genome, and has low level of nucleotide divergence with an estimated average age of 2.34 million years old suggesting that expansion of the L1 preTa subfamily occurred just after the divergence of humans and African apes. We have identified 362 preTa L1 elements from the draft human genomic sequence, investigated the genomic characteristics of preTa L1 insertions, and screened individual elements across diverse human populations and various non-human primate species using polymerase chain reaction (PCR) assays to determine the phylogenetic origin and levels of human genomic diversity associated with the L1 elements. All of the preTa L1 elements analyzed by PCR were absent from the orthologous positions in non-human primate genomes with 33 (14%) of the L1 elements being polymorphic with respect to insertion presence or absence in the human genome. The newly identified L1 insertion polymorphisms will prove useful as identical by descent genetic markers for the study of human population genetics. We provide evidence that preTa L1 elements show an integration site preference for genomic regions with low GC content. Computational analysis of the preTa L1 elements revealed that 29% of the elements amenable to complete sequence analysis have apparently escaped 5′ truncation and are essentially full-length (approximately 6kb). In all, 29 have two intact open reading frames and may be capable of retrotransposition. © 2003 Elsevier Science Ltd. All rights reserved.
Authors & Co-Authors
Salem, Abdel Halim
United States, Baton Rouge
Louisiana State University
Egypt, Ismailia
Faculty of Medicine
Myers, Jeremy S.
United States, Baton Rouge
Louisiana State University
Otieno, Anthony C.
United States, Baton Rouge
Louisiana State University
Watkins, W. Scott
United States, Salt Lake City
University of Utah Health Sciences
Jorde, Lynn B.
United States, Salt Lake City
University of Utah Health Sciences
Batzer, Mark A.
United States, Baton Rouge
Louisiana State University
Statistics
Citations: 41
Authors: 6
Affiliations: 3
Identifiers
Doi:
10.1016/S0022-2836(03)00032-9
ISSN:
00222836
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study