 | CHARCOT-MARIE-TOOTH DISORDERS
Copyright © 1999 by the New York Academy of Sciences
description
Annals of the New York Academy of Sciences 883:22-35 (1999)
© 1999 New York Academy of Sciences
Molecular Mechanisms for CMT1A Duplication and HNPP Deletion
C. F. BOERKOELa,
K. INOUEa,
L. T. REITERa,
L. E. WARNERa AND
J. R. LUPSKIa,b,c
aDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 609E, Houston, Texas 77030, USA
bDepartment of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Room 609E, Houston, Texas 77030, USA
cAddress for correspondence: 713-798-3723 (voice); 713-798-5073 (fax); jlupski{at}bcm.tmc.edu (e-mail).
As the best characterized human genomic disorders, 118 CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following: (1) Recombination occurs between homologous sequences flanking the duplicated/deleted genomic segment. (2) The evolution of the mammalian genome may result in an architecture consisting of region-specific low-copy repeats that predispose to rearrangement secondary to providing homologous regions as substrate for recombination. (3) Strand exchange occurs preferentially in a region of perfect sequence identity within the flanking repeat sequences. (4) Double-strand breaks likely initiate recombination between the flanking repeats. (5) The mechanism and rate of homologous recombination resulting in DNA rearrangement may differ for male and female gametogenesis. (6) Homologous recombination resulting in DNA rearrangement occurs with high frequency in the human genome. (7) Genomic disorders result from structural features of the human genome and not population specific alleles or founder effects; therefore, genomic disorders appear to occur with equal frequencies in different world populations.
This article has been cited by other articles:
|
|
|
|
 
N. I. Wolf, E. A. Sistermans, M. Cundall, G. M. Hobson, A. P. Davis-Williams, R. Palmer, P. Stubbs, S. Davies, M. Endziniene, Y. Wu, et al.
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease
Brain,
April 1, 2005;
128(4):
743 - 751.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
P. Stankiewicz, C. J. Shaw, M. Withers, K. Inoue, and J. R. Lupski
Serial segmental duplications during primate evolution result in complex human genome architecture
Genome Res.,
November 1, 2004;
14(11):
2209 - 2220.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S.-S. Park, P. Stankiewicz, W. Bi, C. Shaw, J. Lehoczky, K. Dewar, B. Birren, and J. R. Lupski
Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs
Genome Res.,
May 1, 2002;
12(5):
729 - 738.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Aradhya, T. Bardaro, P. Galgoczy, T. Yamagata, T. Esposito, H. Patlan, A. Ciccodicola, A. Munnich, S. Kenwrick, M. Platzer, et al.
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
Hum. Mol. Genet.,
October 1, 2001;
10(22):
2557 - 2567.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
P. Stankiewicz, S.-S. Park, K. Inoue, and J. R. Lupski
The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP
Genome Res.,
July 1, 2001;
11(7):
1205 - 1210.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. Lopez-Correa, M. Dorschner, H. Brems, C. Lazaro, M. Clementi, M. Upadhyaya, D. Dooijes, U. Moog, H. Kehrer-Sawatzki, J. L. Rutkowski, et al.
Recombination hotspot in NF1 microdeletion patients
Hum. Mol. Genet.,
June 1, 2001;
10(13):
1387 - 1392.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
K. Inoue, K. Dewar, N. Katsanis, L. T. Reiter, E. S. Lander, K. L. Devon, D. W. Wyman, J. R. Lupski, and B. Birren
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
Genome Res.,
June 1, 2001;
11(6):
1018 - 1033.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. L. Badano, K. Inoue, N. Katsanis, and J. R. Lupski
New Polymorphic Short Tandem Repeats for PCR-based Charcot-Marie-Tooth Disease Type 1A Duplication Diagnosis
Clin. Chem.,
May 1, 2001;
47(5):
838 - 843.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
L.-L. Han, M. P. Keller, W. Navidi, P. F. Chance, and N. Arnheim
Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate
Hum. Mol. Genet.,
July 22, 2000;
9(12):
1881 - 1889.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
