The DOI matches its Crossref record; 43 of the 43 references it cites were found in a registry or an index.
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity
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.
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In the citing paper
“While various pseudogenes were originally attributed to chromosomes 1, 2, 10, 16, 20, and 22 by polymerase chain reaction analysis of monochromosomal mapping panels and by the use of fluorescence in situ hybridization (FISH), five different pseudogenes are now assigned to chromosomal regions 2p11 (two copies), 10p11, 16p11, and 22q11.31,47”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [47]
In the citing paper
“These all consist of exons 7–10 of the ABCD1 gene and are derived from one ancestral duplication, probably to chromosome 2, which was followed by further duplications in a process termed pericentromeric plasticity.47”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [47]
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Cites
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202
The evolution of genes: the chicken preproinsulin gene
Perler, F. B. (1980) · Cell · doi:10.1016/0092-8674(80)90641-8 · Cited by 699
Recombination at the human α-globin gene cluster: Sequence features and topological constraints
Nicholls, R. D., Fischel‐Ghodsian, N., & Higgs, D. R. (1987) · Cell · doi:10.1016/0092-8674(87)90289-3 · Cited by 345
DNA Sequences Mediating Class Switching in α-Immunoglobulins
Davis, M. M., Kim, S. K., & Hood, L. (1980) · Science · doi:10.1126/science.6774415 · Cited by 238
Vogt, P. H. (1990) · Human Genetics · doi:10.1007/bf00196228 · Cited by 202
Eichler, E. E. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.7.899 · Cited by 148
Self-citationNumbers and Ratios of Visual Pigment Genes for Normal Red-Green Color Vision
Neitz, M., & Neitz, J. (1995) · Science · doi:10.1126/science.7863325 · Cited by 131
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
(1995) · Europe PMC (PubMed Central) · Cited by 130
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
Juyal, R. C., Figuera, L. E., Hauge, X., Elsea, S. H., Lupski, J. R., Greenberg, F., Baldini, A., & Patel, P. I. (1996) · PubMed Central · Cited by 127
Archidiacono, N., Antonacci, R., Marzella, R., Finelli, P., Lonoce, A., & Rocchi, M. (1995) · Genomics · doi:10.1016/0888-7543(95)80048-q · Cited by 114
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SLC6 Neurotransmitter Transporters: Structure, Function, and Regulation
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Segmental Duplications: Organization and Impact Within the Current Human Genome Project AssemblyPreprint
Bailey, J. A., Yavor, A. M., Massa, H. F., Trask, B. J., & Eichler, E. E. (2001) · Genome Research · doi:10.1101/gr.187101 · Cited by 708
Self-citationEVOLUTION OF THE ATP-BINDING CASSETTE (ABC) TRANSPORTER SUPERFAMILY IN VERTEBRATES
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Metadata
- Authors
- Eichler, E.
- Affiliations
- Lawrence Livermore National Laboratory (US)
- Corresponding author
- Eichler, E.
- ORCID
- Eichler, E.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-07-01
- Volume
- 6
- Issue
- 7
- Pages
- 991-1002
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2125094037
- Cited by
- 143
- References
- 43
- Citations by year
- 2025: 2 · 2024: 1 · 2022: 1 · 2021: 4 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 4 · 2015: 1 · 2013: 3 · 2012: 1
- FWCI
- 9.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
- Funders
- National Institute on Deafness and Other Communication Disorders (P01DC002027, DC02027)
- National Institute of General Medical Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- adrenoleukodystrophy, transposable elements, duplicons, X chromosome, chromosome 22q11, nonhomologous recombination, primate evolution, phylogenetic analysis
- MeSH terms
- Adrenoleukodystrophy, Amino Acid Sequence, Base Sequence, Centromere, Chromosome Mapping, Chromosomes, Human, Biological Evolution, Humans, Male, Molecular Sequence Data, Phylogeny, Repetitive Sequences, Nucleic Acid, X Chromosome, Sequence Homology, Amino Acid, Sequence Analysis, Chromosome Breakage
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