The insertional history of an active family of L1 retrotransposons in humans

Stephane Boissinot, Ali Entezam, Lynn Young, Peter J. Munson, Anthony V. Furano

Research output: Contribution to journalArticle

Abstract

As humans contain a currently active L1 (LINE-1) non-LTR retrotransposon family (Ta-1), the human genome database likely provides only a partial picture of Ta-1-generated diversity. We used a non-biased method to clone Ta-1 retrotransposon-containing loci from representatives of four ethnic populations. We obtained 277 distinct Ta-1 loci and identified an additional 67 loci in the human genome database. This collection represents -90% of the Ta-1 population in the individuals examined and is thus more representative of the insertional history of Ta-1 than the human genome database, which lacked -40% of our cloned Ta-1 elements. As both polymorphic and fixed Ta-1 elements are as abundant in the GC-poor genomic regions as in ancestral L1 elements, the enrichment of L1 elements in GC-poor areas is likely due to insertional bias rather than selection. Although the chromosomal distribution of Ta-1 inserts is generally a function of chromosomal length and gene density, chromosome 4 significantly deviates from this pattern and has been much more hospitable to Ta-1 insertions than any other chromosome. Also, the intra-chromosomal distribution of Ta-1 elements is not uniform. Ta-1 elements tend to cluster, and the maximal gaps between Ta-1 inserts are larger than would be expected from a model of uniform random insertion.

Original languageEnglish (US)
Pages (from-to)1221-1231
Number of pages11
JournalGenome Research
Volume14
Issue number7
DOIs
StatePublished - Jul 1 2004

Fingerprint

Retroelements
Human Genome
Long Interspersed Nucleotide Elements
History
Databases
Chromosomes, Human, Pair 4
Selection Bias
Population
Clone Cells
Chromosomes
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

The insertional history of an active family of L1 retrotransposons in humans. / Boissinot, Stephane; Entezam, Ali; Young, Lynn; Munson, Peter J.; Furano, Anthony V.

In: Genome Research, Vol. 14, No. 7, 01.07.2004, p. 1221-1231.

Research output: Contribution to journalArticle

Boissinot, Stephane ; Entezam, Ali ; Young, Lynn ; Munson, Peter J. ; Furano, Anthony V. / The insertional history of an active family of L1 retrotransposons in humans. In: Genome Research. 2004 ; Vol. 14, No. 7. pp. 1221-1231.
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