Functional SNPs in the SCGB3A2 promoter are
... Many genetic studies of GD have been carried out and several genes, such as human leukocyte antigen (3), cytotoxic T lymphocyte antigen 4 (CTLA-4) (5,6), CD40 gene (7), PTPN22 (8), TSHR (9) and SAS-ZFAT (10) have been linked to GD susceptability. However, none of these genes show an absolute correla ...
... Many genetic studies of GD have been carried out and several genes, such as human leukocyte antigen (3), cytotoxic T lymphocyte antigen 4 (CTLA-4) (5,6), CD40 gene (7), PTPN22 (8), TSHR (9) and SAS-ZFAT (10) have been linked to GD susceptability. However, none of these genes show an absolute correla ...
The Evolutionary History of Human and Chimpanzee Y
... The initial comparisons of human and chimpanzee (Pan troglodytes) Y-chromosome sequences revealed that although there are no lineage-specific gene-disruptive mutations in the X-degenerate portion of the Y-chromosome fixed within humans, surprisingly, 4 genes, CYorf15B, TBL1Y, TMSB4Y, and USP9Y, are ...
... The initial comparisons of human and chimpanzee (Pan troglodytes) Y-chromosome sequences revealed that although there are no lineage-specific gene-disruptive mutations in the X-degenerate portion of the Y-chromosome fixed within humans, surprisingly, 4 genes, CYorf15B, TBL1Y, TMSB4Y, and USP9Y, are ...
Coding Regions of MSX1 do not Contribute to Non
... Our study was based on case-control design rather than case-parent study design. The reason that executed us to choose this study design was not having any information about the variations of MSX1 in Turkish population. This study design was reported to be more useful in understanding the role of ca ...
... Our study was based on case-control design rather than case-parent study design. The reason that executed us to choose this study design was not having any information about the variations of MSX1 in Turkish population. This study design was reported to be more useful in understanding the role of ca ...
Functional genomics in chickens
... gene networks and regulatory pathways from vast volumes of microarray data. In initial studies with liver-specific microarrays (3.1 K), we have examined gene expression profiles in liver during the peri-hatch transition and during a strong metabolic perturbation — fasting and re-feeding — in diverge ...
... gene networks and regulatory pathways from vast volumes of microarray data. In initial studies with liver-specific microarrays (3.1 K), we have examined gene expression profiles in liver during the peri-hatch transition and during a strong metabolic perturbation — fasting and re-feeding — in diverge ...
P D G E
... the likely underlying structure. The following data characteristics are typical of the gene expression dataset: Measurement accuracy of mRNA expression levels depends on the experimental design and rigour. While design of experiments is not a specific focus of this chapter, a good design minimises ...
... the likely underlying structure. The following data characteristics are typical of the gene expression dataset: Measurement accuracy of mRNA expression levels depends on the experimental design and rigour. While design of experiments is not a specific focus of this chapter, a good design minimises ...
Etude Annotation
... Bxz3 for now, because these two phages have annotations in GenBank already—which means that when I look for individual genes using BLAST on the NCBI website, I should see these genes, and they will ...
... Bxz3 for now, because these two phages have annotations in GenBank already—which means that when I look for individual genes using BLAST on the NCBI website, I should see these genes, and they will ...
The Old World monkey DAZ (Deleted in
... The cynDAZ cDNA shares high homology with the cynDAZL1 cDNA, but is much larger and has a more complex structure. It covers 4490 nucleotides with 13 nucleotides for the 5′-UTR and 2032 nucleotides forming the 3′-UTR. Inspection of the ORF, extending from +1 to 2454, revealed the presence of a struct ...
... The cynDAZ cDNA shares high homology with the cynDAZL1 cDNA, but is much larger and has a more complex structure. It covers 4490 nucleotides with 13 nucleotides for the 5′-UTR and 2032 nucleotides forming the 3′-UTR. Inspection of the ORF, extending from +1 to 2454, revealed the presence of a struct ...
Mapping of partially overlapping de novo deletions across an autism
... performed within these regions. However, while rare mutations have been reported in some candidate genes, these are often found to affect relatively few autistic individuals and are seldom supported by association trends within larger cohorts. The lack of definitive linkage and association-based res ...
... performed within these regions. However, while rare mutations have been reported in some candidate genes, these are often found to affect relatively few autistic individuals and are seldom supported by association trends within larger cohorts. The lack of definitive linkage and association-based res ...
Genes for Two Mitochondrial Ribosomal Proteins in
... Repeated transfer to the nucleus has led to a highly variable distribution of ribosomal protein and succinate dehydrogenase genes among mitochondrial genomes of angiosperms. This variability is highlighted by the complete sequence determination of the mitochondrial genomes of Arabidopsis (Unseld et ...
... Repeated transfer to the nucleus has led to a highly variable distribution of ribosomal protein and succinate dehydrogenase genes among mitochondrial genomes of angiosperms. This variability is highlighted by the complete sequence determination of the mitochondrial genomes of Arabidopsis (Unseld et ...
The Genetics of Microcephaly
... affected for no definite reason and the medical tests that they undergo fail to provide any clues as to the cause. Some causes of microcephaly Genetic chromosome disorders Genetic single gene disorders Certain prenatal infections affecting the fetus Cerebrovascular accident in the fetus (stroke) Sev ...
... affected for no definite reason and the medical tests that they undergo fail to provide any clues as to the cause. Some causes of microcephaly Genetic chromosome disorders Genetic single gene disorders Certain prenatal infections affecting the fetus Cerebrovascular accident in the fetus (stroke) Sev ...
the contribution of gene movement to the two rules of speciation
... of developmental and reproductive biology of the X. We briefly introduce these mechanisms below, returning to the evidence for each in the next section. There are three mechanisms by which genes can move between chromosomes. The first involves the simple movement of a gene from one chromosome to ano ...
... of developmental and reproductive biology of the X. We briefly introduce these mechanisms below, returning to the evidence for each in the next section. There are three mechanisms by which genes can move between chromosomes. The first involves the simple movement of a gene from one chromosome to ano ...
The Biology and Evolution of Mammalian Y Chromosomes
... Sex chromosomes and sex reversal The first era in molecularly-grounded Y chromosome research focused on one biological role of the Y chromosome: testis determination. In 1959, reports of 45,X females (Turner syndrome, with oocyte-depleted ovaries) and 47,XXY males (Klinefelter syndrome, with germ-ce ...
... Sex chromosomes and sex reversal The first era in molecularly-grounded Y chromosome research focused on one biological role of the Y chromosome: testis determination. In 1959, reports of 45,X females (Turner syndrome, with oocyte-depleted ovaries) and 47,XXY males (Klinefelter syndrome, with germ-ce ...
Models of Selection, Isolation, and Gene Flow in Speciation
... diversity include point mutation of single nucleotides, duplication, deletion, or gene conversion. These processes operate on relatively short time scales within lineages of cells and organisms, and give rise to new allelic variants that differ from an original or ancestral allele by as little as on ...
... diversity include point mutation of single nucleotides, duplication, deletion, or gene conversion. These processes operate on relatively short time scales within lineages of cells and organisms, and give rise to new allelic variants that differ from an original or ancestral allele by as little as on ...
Sequence analysis of three mitochondrial DNA molecules reveals
... mtDNA sizes ranges from 64 to 86 kb, whereas the sensu lato group has mtDNA with sizes below 50 kb (19,21). The gene order also varies considerably within the Saccharomyces genus and is a result of a limited number of large rearrangements taking place during the yeast evolutionary history (21). Prev ...
... mtDNA sizes ranges from 64 to 86 kb, whereas the sensu lato group has mtDNA with sizes below 50 kb (19,21). The gene order also varies considerably within the Saccharomyces genus and is a result of a limited number of large rearrangements taking place during the yeast evolutionary history (21). Prev ...
Molecular Evolution in Nonrecombining Regions of the Drosophila
... ª The Author(s) 2012. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/ 3.0), which permi ...
... ª The Author(s) 2012. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/ 3.0), which permi ...
DNA Sequence Capture and Enrichment by Microarray Followed by
... management of massive amounts of data and potential interference from highly homologous sequences (e.g., pseudogenes) (10 ). Because the NGS technology is so new, QC of the sequence data (including the accuracy of reads, quality scores for reads, and sequencingcoverage needs) has not yet been well d ...
... management of massive amounts of data and potential interference from highly homologous sequences (e.g., pseudogenes) (10 ). Because the NGS technology is so new, QC of the sequence data (including the accuracy of reads, quality scores for reads, and sequencingcoverage needs) has not yet been well d ...
Divergent evolution of oxidosqualene cyclases in plants
... OSCs from higher plants, including Arabidopsis thaliana, Oryza sativa, Sorghum bicolor and Brachypodium distachyon. • The functional analysis identified an amino acid sequence for isoarborinol synthase (OsIAS) (encoded by Os11g35710 ⁄ OsOSC11) in rice. Our phylogenetic analysis suggests that expansi ...
... OSCs from higher plants, including Arabidopsis thaliana, Oryza sativa, Sorghum bicolor and Brachypodium distachyon. • The functional analysis identified an amino acid sequence for isoarborinol synthase (OsIAS) (encoded by Os11g35710 ⁄ OsOSC11) in rice. Our phylogenetic analysis suggests that expansi ...
Divergent evolution of oxidosqualene cyclases in plants
... OSCs from higher plants, including Arabidopsis thaliana, Oryza sativa, Sorghum bicolor and Brachypodium distachyon. • The functional analysis identified an amino acid sequence for isoarborinol synthase (OsIAS) (encoded by Os11g35710 ⁄ OsOSC11) in rice. Our phylogenetic analysis suggests that expansi ...
... OSCs from higher plants, including Arabidopsis thaliana, Oryza sativa, Sorghum bicolor and Brachypodium distachyon. • The functional analysis identified an amino acid sequence for isoarborinol synthase (OsIAS) (encoded by Os11g35710 ⁄ OsOSC11) in rice. Our phylogenetic analysis suggests that expansi ...
genes. Numbers of 6-10 copies per genome have
... transcriptionally active pseudogene that has been reported in plants. In addition, another clone was found to contain coding sequences which are 100% homologous to a previously-cloned tobacco SSU gene (Mazur, B.J. and Chiu, C-F. [1985] Nuc. Acids Res. 13, 2372-2386), indicating that gene duplication ...
... transcriptionally active pseudogene that has been reported in plants. In addition, another clone was found to contain coding sequences which are 100% homologous to a previously-cloned tobacco SSU gene (Mazur, B.J. and Chiu, C-F. [1985] Nuc. Acids Res. 13, 2372-2386), indicating that gene duplication ...
Target selected insertional mutagenesis on chromosome IV of
... In order to further establish a system that could be used in reverse genetics screens in Arabidopsis, to complement the already available T-DNA populations, we used a modified two component maize Enhancer– Inhibitor (En– I or Spm– dSpm) transposable element system. A stable transposase locus T-En5, ...
... In order to further establish a system that could be used in reverse genetics screens in Arabidopsis, to complement the already available T-DNA populations, we used a modified two component maize Enhancer– Inhibitor (En– I or Spm– dSpm) transposable element system. A stable transposase locus T-En5, ...
Chromosome Analysis Suite 3.1 (ChAS 3.1)
... When reported as “N/A,” it means that the percentage of aberrant cells could not be estimated. ...
... When reported as “N/A,” it means that the percentage of aberrant cells could not be estimated. ...
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.