Selection against deleterious LINE-1-containing loci in the human lineage

Stephane Boissinot, Ali Entezam, Anthony V. Furano

Research output: Contribution to journalArticle

Abstract

We compared sex chromosomal and autosomal regions of similar GC contents and found that the human Y chromosome contains nine times as many full-length (FL) ancestral LINE-1 (L1) elements per megabase as do autosomes and that the X chromosome contains three times as many. In addition, both sex chromosomes contain a ca. twofold excess of elements that are >500 bp but not long enough to be capable of autonomous replication. In contrast, the autosomes are not deficient in short (<500 bp) L1 elements or SINE elements relative to the sex chromosomes. Since neither the Y nor the X chromosome, when present in males, can be cleared of deleterious genetic loci by recombination, we conclude that most FL L1s were deleterious and thus subject to purifying selection. Comparison between nonrecombining and recombining regions of autosome 21 supported this conclusion. We were able to identify a subset of loci in the human DNA database that once contained active L1 elements, and we found by using the polymerase chain reaction that 72% of them no longer contain L1 elements in a representative of each of eight different ethnic groups. Genetic damage produced by both L1 retrotransposition and ectopic (nonallelic) recombination between L1 elements could provide the basis for their negative selection.

Original languageEnglish (US)
Pages (from-to)926-935
Number of pages10
JournalMolecular Biology and Evolution
Volume18
Issue number6
DOIs
StatePublished - Jan 1 2001

Fingerprint

Long Interspersed Nucleotide Elements
autosomes
chromosome
sex chromosomes
X chromosome
loci
Sex Chromosomes
X Chromosome
Genetic Recombination
recombination
Y chromosome
nationalities and ethnic groups
Short Interspersed Nucleotide Elements
Chromosomes, Human, Y
polymerase chain reaction
Genetic Loci
Nucleic Acid Databases
Base Composition
ethnic group
DNA Replication

Keywords

  • Evolution
  • Human
  • L1/LINE-1
  • Retrotransposon
  • Sex chromosome

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics

Cite this

Selection against deleterious LINE-1-containing loci in the human lineage. / Boissinot, Stephane; Entezam, Ali; Furano, Anthony V.

In: Molecular Biology and Evolution, Vol. 18, No. 6, 01.01.2001, p. 926-935.

Research output: Contribution to journalArticle

Boissinot, Stephane ; Entezam, Ali ; Furano, Anthony V. / Selection against deleterious LINE-1-containing loci in the human lineage. In: Molecular Biology and Evolution. 2001 ; Vol. 18, No. 6. pp. 926-935.
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