1-20 of 1345 Search Results for

duplicate

Sort by
Book Chapter
Book Chapter
Book Chapter
Book Chapter
Series: Genome Dynamics
Volume: 3
Published: 13 September 2007
10.1159/000107605
EISBN: 978-3-8055-8341-1
... Abstract Duplicated genes can undergo different fates, from nonfunctionalization to subfunctionalizationand neofunctionalization. In particular, changes in regulatory sequences affectingthe expression domain of genes seem to be responsible for the latter two fates. In thisstudy we used...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287600
EISBN: 978-3-8055-9281-9
... and, based on this technology, numerous mental retardation-related unbalanced chromosome aberrations such as deletions, duplications, translocations and inversions have been reported and categorized [ 5 ]. Conventional cytogenetic analysis uses light microscopy with a maximum resolution of 5-10 megabases...
Book Chapter
Series: Genome Dynamics
Volume: 4
Published: 14 April 2008
10.1159/000126004
EISBN: 978-3-8055-8492-0
... Abstract Current data from complete eukaryotic genomes indicate that ancestral gene duplications,followed by a mutational process called fractionation, generated profound and orderly changesin gene content. Most of these duplicated genes are removed. At least three hypotheses mayexplain...
Book Chapter
Series: Genome Dynamics
Volume: 4
Published: 14 April 2008
10.1159/000125999
EISBN: 978-3-8055-8492-0
... Abstract Partial or complete genome duplication is a punctuational event in the evolutionary historyof a lineage, with permanent consequences for all descendants. Careful analysis of burgeoningcDNA and genomic sequence data have underlined the importance of genomeduplication in the evolution...
Book Chapter
Series: Genome Dynamics
Volume: 4
Published: 14 April 2008
10.1159/000126003
EISBN: 978-3-8055-8492-0
... Abstract Whole genome duplications (WGD) have been a frequent occurrence during the evolutionof angiosperms, providing all gene families the opportunity to grow and diversify. Mostof this potential growth has not been realized, since each WGD has been followed by massivegene losses...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287595
EISBN: 978-3-8055-9281-9
... Abstract Mental retardation (MR) has many different genetic causes, ranging from single gene to whole-chromosome changes. Some of the chromosomal changes underlying MR are recurrent submicroscopic deletions and duplications. These events result from non-allelic homologous recombination...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287601
EISBN: 978-3-8055-9281-9
... disomy, are demonstrated by means of clinical examples. Historical Overview Traditionally, karyotyping has been performed for the genome wide detection of chromosomal imbalances, such as aneuploidy, deletions and duplications. Conventional karyotyping has been the method of choice for five...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287603
EISBN: 978-3-8055-9281-9
... and it has been reported in mosaic and non-mosaic forms; it may occur de novo or be inherited and be associated with ring chromosome 22 and in rare cases with proximal inverted duplications. Rare terminal duplications of 22q13 have also been found. Haploinsufficiency of the SHANK3/ProSAP2 gene, less than...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
EISBN: 978-3-8055-9281-9
... genome. Am J Hum Genet 2007;80:91-104 3. Lejeune J, Turpin R, Gautier M: Chromosomic diagnosis of mongolism [article in French]. Arch Fr Pediatr 1959;16:962-963 4. Barber JCK, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, et al: Duplications and copy number variants of 8p23.1...
Book Chapter
Series: Monographs in Human Genetics
Volume: 16
Published: 17 April 2008
10.1159/000126547
EISBN: 978-3-8055-8521-7
... Abstract Duplicated sequences such as the NF1REPs and the SUZ12 sequences located withinthe NF1 gene region predispose to gross NF1 deletions, which constitute the most frequentrecurrent mutations in NF1. Type-1 deletions of 1.4 Mb are mediated by non-allelic homologousrecombination (NAHR...
Book Chapter
Series: Genome Dynamics
Volume: 2
Published: 24 July 2006
10.1159/000095101
EISBN: 978-3-318-01376-4
... for the study of gene duplication because new species can evolve through allopolyploidization,a type of genome duplication that can result from hybridization among species.The current genomic resources for Xenopus briefly described here, combined with the practicalexperimental advantages of this non-mammalian...
Book Chapter
Series: Genome Dynamics
Volume: 1
Published: 27 March 2006
10.1159/000092496
EISBN: 978-3-318-01290-3
... the rearrangements that cause this group of diseases and traits is nonallelichomologous recombination (NAHR) (unequal crossing-over between chromatids or chromosomes)utilizing low-copy repeats (LCRs) (also known as segmental duplications) as substrates.In contradistinction to highly repetitive sequences (e.g. Alu...
Book
Book Cover Image
Series: Genome Dynamics
Volume: 4
Published: 14 April 2008
10.1159/isbn.978-3-8055-8492-0
EISBN: 978-3-8055-8492-0
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
EISBN: 978-3-8055-9281-9
... R, et al: Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006;38:1038-1042 14. Lu X, Shaw CA, Patel A, Li J, Cooper ML, et al: Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287602
EISBN: 978-3-8055-9281-9
... in schizophrenia. In fact, 30% of patients carrying this deletion develop psychosis [ 12 ]. In genome wide screening studies in schizophrenic patients for copy number variants (CNVs), 22q11.2 deletions are found in 0.2-1.8% of these patients [ 13 , 14 ]. There is also a reciprocal duplication, but the phenotype...
Book Chapter
Series: Karger eBooks Non-Series Collection
Published: 02 June 2015
10.1159/000375209
EISBN: 978-3-318-03004-4
... for approximately one tenth of all cardiac malformations. In addition, genomic disorders often resulting from instability of the regional genomic architecture, constitute a major fraction of CVM. These events are usually submicroscopic, and are observed as genomic deletions and/or duplications. The widespread use...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000319987
EISBN: 978-3-8055-9595-7
... of chromosomal aberrations, mainly deletions and duplications, have been described in association with craniosynostosis, including deletions 2q, 3p, 7p, 9p, 11p and duplications 1q, 5q, 13q and 15q [ 25 - 33 ]. This mechanism contributes to explain approximately 16% of syndromic craniosynostosis. Our current...