
Biological interpretation of genome-wide association studies using
... he causal variants, genes and pathways in many genomewide association studies (GWAS) loci often remain elusive, due to linkage disequilibrium (LD) between associated variants, long-range regulation and incomplete biological knowledge of gene function. To translate genetic associations into biologica ...
... he causal variants, genes and pathways in many genomewide association studies (GWAS) loci often remain elusive, due to linkage disequilibrium (LD) between associated variants, long-range regulation and incomplete biological knowledge of gene function. To translate genetic associations into biologica ...
Supplementary Notes S1 (doc 64K)
... 2. Import the target region list. Ensured that the chromosome name and coordinates specified for every region were valid. Also tested that there were no overlaps between regions in the input list. Overlaps and duplicates in the initial lists were resolved and resulted in a final list of 11,000 targe ...
... 2. Import the target region list. Ensured that the chromosome name and coordinates specified for every region were valid. Also tested that there were no overlaps between regions in the input list. Overlaps and duplicates in the initial lists were resolved and resulted in a final list of 11,000 targe ...
Dissecting Gene Expression Changes Accompanying a Ploidy
... on chromosome 21 has been shown to be increased (MAO et al. 2003), mirroring the increased copy number of those genes. This increase in gene expression can produce phenotypic effects in several ways. One mechanism is via direct downstream effects of the overexpressed genes. For example, individuals ...
... on chromosome 21 has been shown to be increased (MAO et al. 2003), mirroring the increased copy number of those genes. This increase in gene expression can produce phenotypic effects in several ways. One mechanism is via direct downstream effects of the overexpressed genes. For example, individuals ...
Non contiguous-finished genome sequence and description of
... tree have a sequenced genome. # indicates that a sequenced genome is available for this species but not for the strain used to build the tree Different growth temperatures (28, 30, 37, 45, 56 °C) were tested. Growth occurred for the temperatures (28–45 °C), but the optimal growth was observed at ...
... tree have a sequenced genome. # indicates that a sequenced genome is available for this species but not for the strain used to build the tree Different growth temperatures (28, 30, 37, 45, 56 °C) were tested. Growth occurred for the temperatures (28–45 °C), but the optimal growth was observed at ...
early RNs, crossing over initiates, then synapsis begins Chiasmata
... DNA sequence structure of two maize inbredsin a1- sh2 interval and cM per bp in each region Four expressed genes in this region ...
... DNA sequence structure of two maize inbredsin a1- sh2 interval and cM per bp in each region Four expressed genes in this region ...
Comparative Genomics of Microbes
... pathway, are found to exist as a group) – Colinearity of gene order is referred as synteny – A conserved group of genes in the same order in two genomes as a syntenic groups or syntenic clusters – Translocation: movement of genomic part from one position to another October 2K5 ...
... pathway, are found to exist as a group) – Colinearity of gene order is referred as synteny – A conserved group of genes in the same order in two genomes as a syntenic groups or syntenic clusters – Translocation: movement of genomic part from one position to another October 2K5 ...
Leukaemia Section 12p abnormalities in myeloid malignancies Atlas of Genetics and Cytogenetics
... deletions of 12p are much more common in lymphoid than in myeloid malignancies; a minimal interstitial deletion region is described, involving ETV6 and CDKN1B genes; homozygous deletion of CDKN1B is rare (the other wild allele never found mutated); none of the malignancies with disease specific chan ...
... deletions of 12p are much more common in lymphoid than in myeloid malignancies; a minimal interstitial deletion region is described, involving ETV6 and CDKN1B genes; homozygous deletion of CDKN1B is rare (the other wild allele never found mutated); none of the malignancies with disease specific chan ...
- Wiley Online Library
... apparent design in nature, but do not imply that optimality will obtain The scrap of nucleic acid residing at a gene position can be usefully attributed with agency. The allele (i.e. the type rather than the token), whilst a ‘beneficiary’ of the evolutionary process, cannot be considered an intentio ...
... apparent design in nature, but do not imply that optimality will obtain The scrap of nucleic acid residing at a gene position can be usefully attributed with agency. The allele (i.e. the type rather than the token), whilst a ‘beneficiary’ of the evolutionary process, cannot be considered an intentio ...
Detection of the Most Common Genetic Causes of
... 1A Y isoform gene (EIF1AY) and the RNA binding motif (RBM) family are found on AZFb region. EIF1AY encodes an essential translation factor. The PTP-BL-related Y (PRY) family of genes is mapped to AZFb and AZFc regions and encodes proteins proposed to be involved in apoptosis. RBM and deleted-in-azoo ...
... 1A Y isoform gene (EIF1AY) and the RNA binding motif (RBM) family are found on AZFb region. EIF1AY encodes an essential translation factor. The PTP-BL-related Y (PRY) family of genes is mapped to AZFb and AZFc regions and encodes proteins proposed to be involved in apoptosis. RBM and deleted-in-azoo ...
Bayesian Partition Models for Identifying Expression Quantitative
... Mapping genetic loci for multiple traits simultaneously has also been shown to be more powerful than mapping single traits at a time (Jiang and Zeng, 1995). Although for a known small set of correlated traits, one can conduct QTL mapping for a few principal components (Mangin et al., 1998), this typ ...
... Mapping genetic loci for multiple traits simultaneously has also been shown to be more powerful than mapping single traits at a time (Jiang and Zeng, 1995). Although for a known small set of correlated traits, one can conduct QTL mapping for a few principal components (Mangin et al., 1998), this typ ...
Letter Gene Survival and Death on the Human Y
... Abstract Y chromosomes have long been dismissed as “graveyards of genes,” but there is still much to be learned from the genetic relics of genes that were once functional on the human Y. We identified human X-linked genes whose gametologs have been pseudogenized or completely lost from the Y chromos ...
... Abstract Y chromosomes have long been dismissed as “graveyards of genes,” but there is still much to be learned from the genetic relics of genes that were once functional on the human Y. We identified human X-linked genes whose gametologs have been pseudogenized or completely lost from the Y chromos ...
A mosaic infertile case of isodicentricY
... Results: In the current thirty-year-old infertile male report, we present a detailed molecular-cytogenetic characterization of an individual with mosaicism involving an isodicentric Y chromosome and some phenotypic features. He was in tall stature, microtestis, delayed speech and increased gonadotro ...
... Results: In the current thirty-year-old infertile male report, we present a detailed molecular-cytogenetic characterization of an individual with mosaicism involving an isodicentric Y chromosome and some phenotypic features. He was in tall stature, microtestis, delayed speech and increased gonadotro ...
A Comparative Gene Map of the Horse (Equus caballus)
... horse synteny groups established previously with a horse-mouse somatic cell hybrid panel (SCHP, UC Davis). This increased the number of coding genes mapped to the horse genome by over 2-fold and allowed refinements of the comparative mapping data available for this species. In conjunction with 57 pr ...
... horse synteny groups established previously with a horse-mouse somatic cell hybrid panel (SCHP, UC Davis). This increased the number of coding genes mapped to the horse genome by over 2-fold and allowed refinements of the comparative mapping data available for this species. In conjunction with 57 pr ...
Journal of Bacteriology
... which is 3,916 kb in size (X.-H. Chen and R. Borriss, unpublished data). All three gene clusters contain the giant open reading frames typical of type I PKS systems. In addition, the pks1 gene cluster contains two hybrid PKS-nonribosomal peptide synthetase (NRPS) genes. The organization of gene clus ...
... which is 3,916 kb in size (X.-H. Chen and R. Borriss, unpublished data). All three gene clusters contain the giant open reading frames typical of type I PKS systems. In addition, the pks1 gene cluster contains two hybrid PKS-nonribosomal peptide synthetase (NRPS) genes. The organization of gene clus ...
Molecular Design of Expression Systems
... gene expression followed by a production phase in which high expression results from induction or derepresSeveral different sion of cloned gene transcripti~n.'~?~~ promoter-operator systems, including lac, trp, and hPL, have been cloned and utilized to regulate transcription of cloned genes!,25 In e ...
... gene expression followed by a production phase in which high expression results from induction or derepresSeveral different sion of cloned gene transcripti~n.'~?~~ promoter-operator systems, including lac, trp, and hPL, have been cloned and utilized to regulate transcription of cloned genes!,25 In e ...
New Perspectives on Rickettsial Evolution from New
... which are found in both coding and non-coding DNA, and direct large repetitive protein domains found in varying number in the rOmpA proteins. For the eight Rickettsia genomes and partial Orientia sequence we have examined in some detail the properties of repeated sequences (VNTR-variable number of t ...
... which are found in both coding and non-coding DNA, and direct large repetitive protein domains found in varying number in the rOmpA proteins. For the eight Rickettsia genomes and partial Orientia sequence we have examined in some detail the properties of repeated sequences (VNTR-variable number of t ...
Marine integrons containing novel integrase genes
... In order to understand the structure and biological significance of integrons and associated gene cassettes in marine polluted sediments, metagenomic DNAs were extracted from sites at Suez and Tokyo Bays. PCR amplicons containing new integrase genes, intI, linked with novel gene cassettes, were reco ...
... In order to understand the structure and biological significance of integrons and associated gene cassettes in marine polluted sediments, metagenomic DNAs were extracted from sites at Suez and Tokyo Bays. PCR amplicons containing new integrase genes, intI, linked with novel gene cassettes, were reco ...
Advances in Environmental Biology Zahra Maryami, Arash Fazeli, Ali-Ashraf Mehrabi
... group-7 chromosomes of each genomes [8,9]. In bread wheat (TriticumaestivumL. ssp. aestivum; 2n = 6x = 42, AABBDD), three waxy proteins, one for each genome, have been identified. Each waxy protein is controlled by one waxy gene (Wx-A1, Wx-B1and Wx-D1), located on chromosome 7AS, 4AL (translocated f ...
... group-7 chromosomes of each genomes [8,9]. In bread wheat (TriticumaestivumL. ssp. aestivum; 2n = 6x = 42, AABBDD), three waxy proteins, one for each genome, have been identified. Each waxy protein is controlled by one waxy gene (Wx-A1, Wx-B1and Wx-D1), located on chromosome 7AS, 4AL (translocated f ...
BGS 99, Lesser internode number 1, lin1
... recommended (2). In some six-rowed cultivars such as Morex, the reduction in rachis internodes associated with the lin1 gene is less obvious (1). A significant reduction triplet number, 1.5 to 2.3 fertile rachis nodes, was associated with the Azumamugi allele in 2HS and mapped near the Eam1 (Early m ...
... recommended (2). In some six-rowed cultivars such as Morex, the reduction in rachis internodes associated with the lin1 gene is less obvious (1). A significant reduction triplet number, 1.5 to 2.3 fertile rachis nodes, was associated with the Azumamugi allele in 2HS and mapped near the Eam1 (Early m ...
#2
... human and chimpanzee, we aligned 14.3 Mb of orthologous noncoding DNA sequences from human, chimpanzee, and baboon (Methods). Subsequently, human chromosomes were split into 1 Mb non-overlapping windows (referred to as loci). We retained 36 loci dispersed over 12 autosomal chromosomes, each of which ...
... human and chimpanzee, we aligned 14.3 Mb of orthologous noncoding DNA sequences from human, chimpanzee, and baboon (Methods). Subsequently, human chromosomes were split into 1 Mb non-overlapping windows (referred to as loci). We retained 36 loci dispersed over 12 autosomal chromosomes, each of which ...
Copy-number variation

Copy-number variations (CNVs)—a form of structural variation—are alterations of the DNA of a genome that results in the cell having an abnormal or, for certain genes, a normal variation in the number of copies of one or more sections of the DNA. CNVs correspond to relatively large regions of the genome that have been deleted (fewer than the normal number) or duplicated (more than the normal number) on certain chromosomes. For example, the chromosome that normally has sections in order as A-B-C-D might instead have sections A-B-C-C-D (a duplication of ""C"") or A-B-D (a deletion of ""C"").This variation accounts for roughly 13% of human genomic DNA and each variation may range from about one kilobase (1,000 nucleotide bases) to several megabases in size. CNVs contrast with single-nucleotide polymorphisms (SNPs), which affect only one single nucleotide base.