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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Inoue, K. Dewar, K. Katsanis, N. Reiter, L. T. Lander, E. S. Devon, K. L. Wyman, D. W. Lupski, J. R. Birren, B. |
| Description | Country affiliation: United States Author Affiliation: Inoue K ( Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.) |
| Abstract | Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A-REPs) represent frequent genomic rearrangements resulting in two common inherited peripheral neuropathies, Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP). CMT1A and HNPP exemplify a paradigm for genomic disorders wherein unique genome architectural features result in susceptibility to DNA rearrangements that cause disease. A gene within the 1.4-Mb region, PMP22, is responsible for these disorders through a gene-dosage effect in the heterozygous duplication or deletion. However, the genomic structure of the 1.4-Mb region, including other genes contained within the rearranged genomic segment, remains essentially uncharacterized. To delineate genomic structural features, investigate higher-order genomic architecture, and identify genes in this region, we constructed PAC and BAC contigs and determined the complete nucleotide sequence. This CMT1A/HNPP genomic segment contains 1,421,129 bp of DNA. A low copy number repeat (LCR) was identified, with one copy inside and two copies outside of the 1.4-Mb region. Comparison between physical and genetic maps revealed a striking difference in recombination rates between the sexes with a lower recombination frequency in males (0.67 cM/Mb) versus females (5.5 cM/Mb). Hypothetically, this low recombination frequency in males may enable a chromosomal misalignment at proximal and distal CMT1A-REPs and promote unequal crossing over, which occurs 10 times more frequently in male meiosis. In addition to three previously described genes, five new genes (TEKT3, HS3ST3B1, NPD008/CGI-148, CDRT1, and CDRT15) and 13 predicted genes were identified. Most of these predicted genes are expressed only in embryonic stages. Analyses of the genomic region adjacent to proximal CMT1A-REP indicated an evolutionary mechanism for the formation of proximal CMT1A-REP and the creation of novel genes by DNA rearrangement during primate speciation. |
| File Format | HTM / HTML |
| ISSN | 10889051 |
| e-ISSN | 15495469 |
| Journal | Genome Research |
| Issue Number | 6 |
| Volume Number | 11 |
| Language | English |
| Publisher | Cold Spring Harbor Laboratory Press |
| Publisher Date | 2001-06-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Discipline Genetics Discipline Genomics Charcot-marie-tooth Disease Genetics Chromosome Deletion Evolution, Molecular Gene Duplication Genome Hereditary Sensory And Motor Neuropathy Animals Chromosomes, Human, Pair 17 Gene Dosage Interspersed Repetitive Sequences Mice Myelin Proteins Physical Chromosome Mapping Pseudogenes Recombination, Genetic Sequence Analysis, Dna Sulfotransferases Comparative Study Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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