The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

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 l...

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Veröffentlicht in:	Genome research 2001-06, Vol.11 (6), p.1018-1033
Hauptverfasser:	Inoue, K, Dewar, K, Katsanis, N, Reiter, L T, Lander, E S, Devon, K L, Wyman, D W, Lupski, J R, Birren, B
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Charcot-Marie-Tooth Disease - genetics Chromosome Deletion Chromosomes, Human, Pair 17 - genetics Evolution, Molecular Female Gene Dosage Gene Duplication Genome Hereditary Sensory and Motor Neuropathy - genetics Humans Interspersed Repetitive Sequences - genetics Letter Male Mice Myelin Proteins - genetics Physical Chromosome Mapping Pseudogenes Recombination, Genetic Sequence Analysis, DNA - methods Sulfotransferases - genetics
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