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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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]
Citations
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
Mutational analysis of patients with X-linked adrenoleukodystrophy
Kok, F., Neumann, S., Sarde, C.-O., Zheng, S., Wu, K.-H., Wei, H.-M., Bergin, J., Watkins, P. A., Gould, S., Sack, G., et al. (1995) · Human Mutation · doi:10.1002/humu.1380060203 · Cited by 103
Baldini, A., & Ward, D. C. (1991) · Genomics · doi:10.1016/0888-7543(91)90374-n · Cited by 103
Régnier, V. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.1.9 · Cited by 100
(1996) · PubMed Central · Cited by 99
An integrated physical map of human chromosome 16.
Doggett, N. A., Goodwin, L., Tesmer, J. G., Meincke, L., Bruce, D. C., Clark, L. M., Altherr, M. R., Ford, A. A., Chi, H. C., & Marrone, B. L. (1995) · PubMed · doi:10.1038/377335a0 · Cited by 93
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11
Halford, S., Lindsay, E., Nayudu, M., Carey, A. H., Baldini, A., & Scambler, P. J. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.2.191 · Cited by 89
Genomic organization of the adrenoleukodystrophy gene
Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., & Mandel, J.-L. (1994) · Genomics · doi:10.1006/geno.1994.1339 · Cited by 82
Krasemann, E., Meier, V., Korenke, G. C., HUNNEMAN, D. H., & Hanefeld, F. A. (1996) · Human Genetics · doi:10.1007/bf02265264 · Cited by 72
Iyer, G. S., Krahe, R., Goodwin, L., Doggett, N. A., Siciliano, M. J., Funanage, V. L., & Proujansky, R. (1996) · Genomics · doi:10.1006/geno.1996.0254 · Cited by 71
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
Fanen, P., Guidoux, S., Sarde, C., Mandel, J., Goossens, M., & Aubourg, P. R. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117363 · Cited by 70
Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2
Ian, M. T., Cook, G. P., Nigel, P. C., Elaswarapu, R., Smith, S. E., Walter, G., Buluwela, L., Rabbitts, T. H., & Winter, G. P. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.6.853 · Cited by 65
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., & Gal, A. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.10.1903 · Cited by 57
Cartier, N., Sarde, C.-O., Douar, A.-M., Mosser, J., Mandel, J.-L., & Aubourg, P. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.11.1949 · Cited by 55
Identification of a Nonsense Mutation in ALD Protein cDNA from a Patient with Adrenoleukodystrophy
Uchiyama, A., Suzuki, Y., Song, X., Fukao, T., Imamura, A., Tomatsu, S., Shimozawa, N., Kondo, N., & Orii, T. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.1092 · Cited by 48
Longmire, J. L., Brown, N. C., Meincke, L., Campbell, M. L., Albright, K. L., Fawcett, J. J., Campbell, E. W., Moyzis, R. K., Hildebrand, C. E., Evans, G. A., et al. (1993) · Genetic Analysis Biomolecular Engineering · doi:10.1016/1050-3862(93)90037-j · Cited by 46
A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16
Wong, Z. Y. H., Royle, N. J., & Jeffreys, A. J. (1990) · Genomics · doi:10.1016/0888-7543(90)90544-5 · Cited by 43
Tunnacliffe, A., Liu, L., Moore, J. K., Leversha, M. A., Jackson, M. S., Papi, L., Ferguson-Smith, M. A., Thiesen, H., & Ponder, A. J. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.6.1409 · Cited by 42
Taylor, S. S., Larin, Z., & Tyler‐Smith, C. (1996) · Chromosoma · doi:10.1007/bf02509516 · Cited by 34
Arnold, N., Wienberg, J., Ermert, K., & Zachau, H. G. (1995) · Genomics · doi:10.1016/0888-7543(95)80095-4 · Cited by 34
Arakawa, H., Iwasato, T., Hayashida, H., Shimizu, A., Honjo, T., & Yamagishi, H. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)53445-1 · Cited by 31
Zimmer, F.-J., Hameister, H., Schek, H., & Zachau, H. G. (1990) · The EMBO Journal · doi:10.1002/j.1460-2075.1990.tb08272.x · Cited by 30
Budarf, M. L., Eckman, B. A., Michaud, D., McDonald, T. P., Gavigan, S., Buetow, K. H., Tatsumura, Y. O., Liu, Z., Hilliard, C. A., Driscoll, D. A., et al. (1996) · Genomics · doi:10.1006/geno.1996.0358 · Cited by 27
Report of the First International Workshop on Human Chromosome 10 Mapping 1995
Moschonas, N. Κ., Spurr, N. K., & Mao, J. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000134172 · Cited by 26
A palindromic structure in the pericentromeric region of various human chromosomes.Preprint
Wöhr, G., Fink, T., & Assum, G. (1996) · Genome Research · doi:10.1101/gr.6.4.267 · Cited by 26
Analysis of human extrachromosomal DNA elements originating from different ?-satellite subfamilies
Assum, G., Fink, T., Steinbei�er, T., & Fisel, K. (1993) · Human Genetics · doi:10.1007/bf00217778 · Cited by 23
Borden, P., Jaenichen, R., & Zachau, H. G. (1990) · Nucleic Acids Research · doi:10.1093/nar/18.8.2101 · Cited by 23
Feil, R., Aubourg, P. R., Mosser, J., Douar, A. M., Paslier, D. L., Philippe, C., & Mandel, J. (1991) · Europe PMC (PubMed Central) · Cited by 19
cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene
Sarde, C., Thomas, J., Puccio, H. M., Garnier, J., & Mandel, J. (1994) · Mammalian Genome · doi:10.1007/bf00292021 · Cited by 18
Robinson, W., Spiegel, R., & Schinzel, A. (1993) · Human Genetics · doi:10.1007/bf00222722 · Cited by 18
Baldini, A., Miller, D. A., Shridhar, V., Rocchi, M., Miller, O. J., & Ward, D. C. (1991) · Chromosoma · doi:10.1007/bf00357060 · Cited by 16
A gene homologous to plasminogen located on human chromosome 2q11–p11
Frank, S. L., Klisak, I. J., Sparkes, R. S., & Lusis, A. J. (1989) · Genomics · doi:10.1016/0888-7543(89)90356-x · Cited by 16
Hengstschläger, M., Maizels, N., & Leung, H. (1995) · Progress in nucleic acid research and molecular biology · doi:10.1016/s0079-6603(08)60811-9 · Cited by 14
Bergen, A. W., Wang, C., Nakhai, B., & Goldman, D. A. (1996) · Human Mutation · doi:10.1002/(sici)1098-1004(1996)7:2 · Cited by 14
Flagged first, then by citations
Cited by
Sorted by citations
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
SLC6 Neurotransmitter Transporters: Structure, Function, and Regulation
Kristensen, A. S., Andersen, J., Jørgensen, T. N., Sørensen, L., Eriksen, J., Loland, C. J., Strømgaard, K., & Gether, U. (2011) · Pharmacological Reviews · doi:10.1124/pr.108.000869 · Cited by 874
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
Dean, M. C., & Annilo, T. (2005) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.6.080604.162122 · Cited by 646
Primate segmental duplications: crucibles of evolution, diversity and disease
Bailey, J. A., & Eichler, E. E. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1895 · Cited by 594
Self-citation
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review