Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity - PubMed

Affiliations

• PMID: 9215666
• DOI: 10.1093/hmg/6.7.991

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

E E Eichler et al. Hum Mol Genet. 1997 Jul.

Abstract

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.

Similar articles

• Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution.

  Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL. Eichler EE, et al. Hum Mol Genet. 1996 Jul;5(7):899-912. doi: 10.1093/hmg/5.7.899. Hum Mol Genet. 1996. PMID: 8817324

• Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications.

  Horvath JE, Gulden CL, Bailey JA, Yohn C, McPherson JD, Prescott A, Roe BA, de Jong PJ, Ventura M, Misceo D, Archidiacono N, Zhao S, Schwartz S, Rocchi M, Eichler EE. Horvath JE, et al. Mol Biol Evol. 2003 Sep;20(9):1463-79. doi: 10.1093/molbev/msg158. Epub 2003 May 30. Mol Biol Evol. 2003. PMID: 12777517

• The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome.

  Horvath JE, Schwartz S, Eichler EE. Horvath JE, et al. Genome Res. 2000 Jun;10(6):839-52. doi: 10.1101/gr.10.6.839. Genome Res. 2000. PMID: 10854415 Free PMC article.

• Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11.

  Horvath JE, Viggiano L, Loftus BJ, Adams MD, Archidiacono N, Rocchi M, Eichler EE. Horvath JE, et al. Hum Mol Genet. 2000 Jan 1;9(1):113-23. doi: 10.1093/hmg/9.1.113. Hum Mol Genet. 2000. PMID: 10587586

• [Molecular genetics of adrenoleukodystrophy].

  Kaneko K. Kaneko K. Nihon Rinsho. 1993 Sep;51(9):2359-63. Nihon Rinsho. 1993. PMID: 8411713 Review. Japanese.

Cited by

• The evolution of human segmental duplications and the core duplicon hypothesis.

  Marques-Bonet T, Eichler EE. Marques-Bonet T, et al. Cold Spring Harb Symp Quant Biol. 2009;74:355-62. doi: 10.1101/sqb.2009.74.011. Epub 2009 Aug 28. Cold Spring Harb Symp Quant Biol. 2009. PMID: 19717539 Free PMC article. Review.

• An eutherian intronic sequence gave rise to a major satellite DNA in Platyrrhini.

  Valeri MP, Dias GB, Pereira VDS, Campos Silva Kuhn G, Svartman M. Valeri MP, et al. Biol Lett. 2018 Jan;14(1):20170686. doi: 10.1098/rsbl.2017.0686. Biol Lett. 2018. PMID: 29386361 Free PMC article.

• Punctuated duplication seeding events during the evolution of human chromosome 2p11.

  Horvath JE, Gulden CL, Vallente RU, Eichler MY, Ventura M, McPherson JD, Graves TA, Wilson RK, Schwartz S, Rocchi M, Eichler EE. Horvath JE, et al. Genome Res. 2005 Jul;15(7):914-27. doi: 10.1101/gr.3916405. Epub 2005 Jun 17. Genome Res. 2005. PMID: 15965031 Free PMC article.

• Interchromosomal duplications on the Bactrocera oleae Y chromosome imply a distinct evolutionary origin of the sex chromosomes compared to Drosophila.

  Gabrieli P, Gomulski LM, Bonomi A, Siciliano P, Scolari F, Franz G, Jessup A, Malacrida AR, Gasperi G. Gabrieli P, et al. PLoS One. 2011 Mar 7;6(3):e17747. doi: 10.1371/journal.pone.0017747. PLoS One. 2011. PMID: 21408187 Free PMC article.

• Retrotransposon-related DNA sequences in the centromeres of grass chromosomes.

  Miller JT, Dong F, Jackson SA, Song J, Jiang J. Miller JT, et al. Genetics. 1998 Dec;150(4):1615-23. doi: 10.1093/genetics/150.4.1615. Genetics. 1998. PMID: 9832537 Free PMC article.

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Silverchair Information Systems

• Molecular Biology Databases

  • The Weizmann Institute of Science GeneCards and MalaCards databases

• Research Materials

  • Coriell Cell Repositories