Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity

Evan E. Eichler, Marcia L. Budarf, Mariano Rocchi, Larry L. Deaven, Norman A. Doggett, Antonio Baldini, David L. Nelson, Harvey W. Mohrenweiser

Research output: Contribution to journalArticlepeer-review


A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has duplicated to specific locations near the pericentromeric regions of human chromosomes 2p11, 10p11, 16p11 and 22q11. Comparative sequence analysis reveals 92-96% nucleotide identity, indicating that the autosomal ALD paralogs arose relatively recently during the course of higher primate evolution (5-10 million years ago). Analysis of sequences flanking the duplication region identifies the presence of an unusual GCTTTTTGC repeat which may be a sequence-specific integration site for the process of pericentromeric-directed transposition. The breakpoint sequence and phylogenetic analysis predict a two-step transposition model, in which a duplication from Xq28 to pericentromeric 2p11 occurred once, followed by a rapid distribution of a larger duplicon cassette among the pericentromeric regions. In addition to facilitating more effective mutation detection among ALD patients, these findings provide further insight into the molecular basis underlying a pericentromeric-directed mechanism for non-homologous interchromosomal exchange.

Original languageEnglish
Pages (from-to)991-1002
Number of pages12
JournalHuman Molecular Genetics
Issue number7
Publication statusPublished - Jul 1997

ASJC Scopus subject areas

  • Genetics


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