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.
about
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineageGenes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseGene conversion homogenizes the CMT1A paralogous repeatsImmunoisolaton of the yeast Golgi subcompartments and characterization of a novel membrane protein, Svp26, discovered in the Sed5-containing compartments.Divergent origins and concerted expansion of two segmental duplications on chromosome 16The evolutionary origin of human subtelomeric homologies--or where the ends beginAnalysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplicationsSegmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms.DDX11L: a novel transcript family emerging from human subtelomeric regionsChimeric transcripts resulting from complex duplications in chromosome Xq28Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.Genome architecture catalyzes nonrecurrent chromosomal rearrangementsReciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.Disorders caused by chromosome abnormalities.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-REPDetection of clinically relevant exonic copy-number changes by array CGH.Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesChromosomal phenotypes and submicroscopic abnormalitiesIdentification and characterization of a bovine sperm acrosomal matrix protein and its mechanism of interaction with acrosomal hydrolases.Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Genomic disorders ten years on.Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesThe tektin family of microtubule-stabilizing proteinsSerial segmental duplications during primate evolution result in complex human genome architecture.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.Dosage-sensitive genes in evolution and disease.
P2860
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P2860
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.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The 1.4-Mb CMT1A duplication/H ...... recent evolution of new genes.
@ast
The 1.4-Mb CMT1A duplication/H ...... recent evolution of new genes.
@en
type
label
The 1.4-Mb CMT1A duplication/H ...... recent evolution of new genes.
@ast
The 1.4-Mb CMT1A duplication/H ...... recent evolution of new genes.
@en
prefLabel
The 1.4-Mb CMT1A duplication/H ...... recent evolution of new genes.
@ast
The 1.4-Mb CMT1A duplication/H ...... recent evolution of new genes.
@en
P2093
P2860
P356
P1433
P1476
The 1.4-Mb CMT1A duplication/H ...... recent evolution of new genes.
@en
P2093
E S Lander
J R Lupski
L T Reiter
P2860
P304
P356
10.1101/GR.180401
P577
2001-06-01T00:00:00Z