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Segmental duplications
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We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous structural variant mutagenesis studies involving the Xq22 region of the human genome.
17p
vibransone
28-03-2024
4
2
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High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic disorders such as the 3q29 deletion syndrome (del3q29S).
17p
vicwell
29-02-2024
2
1
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In this study, 23 GASA genes in common bean were identified and detailed bioinformatics analyzes were conducted at both gene and protein levels. Pvul-GASA proteins were categorized into three clusters, and a total of 13 duplication events (12 segmental and one tandem) were shown to play a role in the expansion of the GASA gene family in Phaseolus vulgaris L. The identified Pvul-GASAs have been shown to be linked to stress and hormone signaling pathways.
36p
lyhuyenthu
31-01-2023
4
2
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Gene innovation by duplication is a fundamental evolutionary process but is difficult to study in humans due to the large size, high sequence identity, and mosaic nature of segmental duplication blocks.
16p
vialfrednobel
29-01-2022
10
0
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Most existing methods for structural variant detection focus on discovery and genotyping of deletions, insertions, and mobile elements. Detection of balanced structural variants with no gain or loss of genomic segments, for example, inversions and translocations, is a particularly challenging task. Furthermore, there are very few algorithms to predict the insertion locus of large interspersed segmental duplications and characterize translocations.
11p
viarchimedes
26-01-2022
5
0
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The complex interspersed pattern of segmental duplications in humans is responsible for rearrangements associated with neurodevelopmental disease, including the emergence of novel genes important in human brain evolution.
35p
viarchimedes
26-01-2022
6
0
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Whole genome re-sequencing data from dogs and wolves are now commonly used to study how natural and artificial selection have shaped the patterns of genetic diversity. Single nucleotide polymorphisms, microsatellites and variants in mitochondrial DNA have been interrogated for links to specific phenotypes or signals of domestication. However, copy number variation (CNV), despite its increasingly recognized importance as a contributor to phenotypic diversity, has not been extensively explored in canids.
15p
vilarryellison
29-10-2021
6
1
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Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases. Similar to how genome-wide association studies (GWAS) have helped discover single-nucleotide polymorphisms linked to disease phenotypes, the extension of GWAS to CNVs has aided the discovery of structural variants associated with human traits and diseases.
9p
vibeauty
23-10-2021
11
1
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The common deletion of the glutathione S-transferase Mu 1 (GSTM1) gene in humans has been shown to be involved in xenobiotic metabolism and associated with bladder cancer. However, the evolution of this deletion has not been investigated.
12p
vibeauty
23-10-2021
7
1
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In diverse plant taxa, whole-genome duplication (WGD) events are major sources of phenotypic novelty. Studies of gene expression in synthetic polyploids have shown immediate expression and functional partitioning of duplicated genes among different tissues. Many studies of the tissue-specific homeolog expression partitioning have focused on allopolyploids that have very different parental genomes, while few studies have focused on autopolyploids or allopolyploids that have similar parental genomes.
10p
vitzuyu2711
29-09-2021
5
1
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Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic segments.
11p
vijeeni2711
30-06-2021
7
1
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Genes located in the same chromosome region share common evolutionary events more often than other genes (e.g. a segmental duplication of this region). Their evolution may also be related if they are involved in the same protein complex or biological process. Identifying co-evolving genes can thus shed light on ancestral genome structures and functional gene interactions.
9p
viwyoming2711
16-12-2020
11
1
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SWEETs play important roles in various biological processes, including plant growth, development, and response to environmental stimuli. Previously, we comprehensively found a total of 28 members of MeSWEET gene family in cassava (Manihot esculenta Crantz). Most of MeSWEET genes had 6 exons and 5 introns. In this study, 6 MeSWEET duplicated pairs, including 5 segmental and 1 tandem duplication events were manually predicted in cassava genome.
9p
tamynhan9
02-12-2020
9
1
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Extant genomes share regions where genes have the same order and orientation, which are thought to arise from the conservation of an ancestral order of genes during evolution. Such regions of so-called conserved synteny, or synteny blocks, must be precisely identified and quantified, as a prerequisite to better understand the evolutionary history of genomes.
15p
vikentucky2711
26-11-2020
8
2
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We propose a new, continuous model of the fractionation process (duplicate gene deletion after polyploidization) on the real line. The aim is to infer how much DNA is deleted at a time, based on segment lengths for alternating deleted (invisible) and undeleted (visible) regions.
8p
vioklahoma2711
19-11-2020
8
1
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During cancer progression genomes undergo point mutations as well as larger segmental changes. The latter include, among others, segmental deletions duplications, translocations and inversions.The result is a highly complex, patient-specific cancer karyotype.
14p
viconnecticut2711
29-10-2020
9
2
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Expansins are plant cell wall loosening proteins that are involved in cell enlargement and a variety of other developmental processes. The expansin superfamily contains four subfamilies; namely, α-expansin (EXPA), β-expansin (EXPB), expansin-like A (EXLA), and expansin-like B (EXLB).
19p
viminato2711
22-05-2020
14
0
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Multidrug and toxic compound extrusion (MATE) transporter proteins are present in all organisms. Although the functions of some MATE gene family members have been studied in plants, few studies have investigated the gene expansion patterns, functional divergence, or the effects of positive selection.
19p
vihashirama2711
21-05-2020
12
2
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The C4 photosynthetic carbon cycle can be explained as the elaborated addition to the C3 photosynthetic pathway. It is a unique series of biochemical, anatomical and regulatory gene characteristics that concentrate CO2around the carboxylating enzyme Rubisco, thereby increasing photosynthetic efficiency during high rates of photorespiration. The C4 photosynthetic pathway has evolved as an adaptation to high light intensities, high temperatures and dryness, therefore in the warmer climates of the tropical and subtropical dominating the grassland floras and biomass production.
15p
nguaconbaynhay3
07-02-2020
16
0
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In humans, the normal diploid number of chromosomes is 46, consisting of 22 pairs of autosomal chromosomes (numbered 1–22 in decreasing size) and one pair of sex chromosomes (XX in females and XY in males). The genome is estimated to contain between 30,000 and 40,000 genes. Even the smallest autosome contains between 200 and 300 genes. Not surprisingly, duplications or deletions of chromosomes, or even small chromosome segments, have profound consequences on normal gene expression, leading to severe developmental and physiologic abnormalities. ...
21p
socolanong
25-04-2012
54
3
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