|Name:||ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2|
|PubMed (9215666):|| Eichler EE, Budarf ML, Rocchi M, Deaven LL, Doggett NA, Baldini A, NelsonDL, Mohrenweiser HW. Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenonof pericentromeric plasticity.Hum Mol Genet. 1997 Jul;6(7):991-1002. PMID: 9215666 [PubMed - indexed for MEDLINE]|
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.