Gene prediction and Genome Annotation
... • RNA seq detect sense and antisense transcripts, protein-encoding or not • Only stranded reads can tell for sure in which sense they should apply • Small read length of RNA seq leads to virtual transcripts, but are they (all) real ones? • Artificial merging of (overlapping) transcripts ...
... • RNA seq detect sense and antisense transcripts, protein-encoding or not • Only stranded reads can tell for sure in which sense they should apply • Small read length of RNA seq leads to virtual transcripts, but are they (all) real ones? • Artificial merging of (overlapping) transcripts ...
Repetitive complete hydatidiform mole can be biparental in origin
... abnormal development. Since biparental CHM are pathologically indistinguishable from the more common androgenetic CHM the underlying mechanism giving rise to these CHM is also likely to be an over-expression of paternally transcribed genes. These rare biparental CHM are, therefore, potentially valua ...
... abnormal development. Since biparental CHM are pathologically indistinguishable from the more common androgenetic CHM the underlying mechanism giving rise to these CHM is also likely to be an over-expression of paternally transcribed genes. These rare biparental CHM are, therefore, potentially valua ...
Blue cone monochromacy: Causative mutations and associated
... Results: In all three families, genetic analysis identified that the underlying cause of BCM involved an unequal crossover within the opsin gene array, with an inactivating mutation. Family 1 had a single 5′-L–M-3′ hybrid gene, with an inactivating Cys203Arg (C203R) mutation. Family 3 had an array c ...
... Results: In all three families, genetic analysis identified that the underlying cause of BCM involved an unequal crossover within the opsin gene array, with an inactivating mutation. Family 1 had a single 5′-L–M-3′ hybrid gene, with an inactivating Cys203Arg (C203R) mutation. Family 3 had an array c ...
Impact of genetic engineering on the understanding of
... point mutation by the Cre-lox P system is largely used in other ®elds. Of particular interest is the control of transgene expression by endogenous regulatory sequence of the gene of interest (socalled knock-in). The latter enables the study of gene complementation, such as a possible rescue of a dis ...
... point mutation by the Cre-lox P system is largely used in other ®elds. Of particular interest is the control of transgene expression by endogenous regulatory sequence of the gene of interest (socalled knock-in). The latter enables the study of gene complementation, such as a possible rescue of a dis ...
Prof. Kamakaka`s Lecture 12 Notes
... A gene with one wild-type allele is monomorphic; a gene with two or more wild-type alleles is polymorphic. The vast majority of traits are determined by alleles of more than one gene. This means that most traits are multifactorial. A Heterogeneous Trait is One That May be caused by mutations in more ...
... A gene with one wild-type allele is monomorphic; a gene with two or more wild-type alleles is polymorphic. The vast majority of traits are determined by alleles of more than one gene. This means that most traits are multifactorial. A Heterogeneous Trait is One That May be caused by mutations in more ...
Distinct functions of two olfactory marker protein genes derived from
... new functions (neofunctionalization) [2, 3]. Alternatively, subfunctionalization is observed especially as a result of WGD. In subfunctionalization, both paralogs are functional, but each paralog undergoes a complementary reduction and specialization in its expression pattern because of the mutation ...
... new functions (neofunctionalization) [2, 3]. Alternatively, subfunctionalization is observed especially as a result of WGD. In subfunctionalization, both paralogs are functional, but each paralog undergoes a complementary reduction and specialization in its expression pattern because of the mutation ...
Factors Affecting synonymous codon Usage Bias in chloroplast
... of synonymous codons, such as CpG islands,5 gene length,6 gene expression level,7 proteins secondary structure8 and gene density9,10 and so on. Codon usage variation is represented by two major paradigms. Codon usage is determined by either mutational bias or natural selection. The unified theory fo ...
... of synonymous codons, such as CpG islands,5 gene length,6 gene expression level,7 proteins secondary structure8 and gene density9,10 and so on. Codon usage variation is represented by two major paradigms. Codon usage is determined by either mutational bias or natural selection. The unified theory fo ...
Some Calpain History- Part 2: GENETICS and EVOLUTION
... The information for calpain genetics is organized by genes for component subunits of calpain-1 (Capn1 and Capns1), calpain-2 (Capn2 and Capns1) and calpastatin (Cast) Capn3 – a genetic link to human disease- Limb-Girdle Muscular Dystrophy type IIA Capn10- a genetic link to human disease- type ...
... The information for calpain genetics is organized by genes for component subunits of calpain-1 (Capn1 and Capns1), calpain-2 (Capn2 and Capns1) and calpastatin (Cast) Capn3 – a genetic link to human disease- Limb-Girdle Muscular Dystrophy type IIA Capn10- a genetic link to human disease- type ...
Genetics of Bacteriophage P22. II. Gene Order and Gene Function.
... largest frequency of recombination between mutations in a complementation group. Also shown are frequencies of recombination between particular mutants in the various genes; these values have been normalized to the interval cl - h21 = 6.8% recombination determined in the s~me cross (Gough and Levine ...
... largest frequency of recombination between mutations in a complementation group. Also shown are frequencies of recombination between particular mutants in the various genes; these values have been normalized to the interval cl - h21 = 6.8% recombination determined in the s~me cross (Gough and Levine ...
Repair of Site-Specific DNA Double-Strand Breaks in
... DSB repair by NHEJ is usually accompanied by loss or gain (or loss and gain) of nucleotides. Therefore, we evaluated the efficiency of DSB repair via NHEJ by testing for short deletions (<30 bp; often linked with classical NHEJ) and longer deletions (indicating alternative end joining; Deriano and Ro ...
... DSB repair by NHEJ is usually accompanied by loss or gain (or loss and gain) of nucleotides. Therefore, we evaluated the efficiency of DSB repair via NHEJ by testing for short deletions (<30 bp; often linked with classical NHEJ) and longer deletions (indicating alternative end joining; Deriano and Ro ...
Leukocytes fighting against obesity
... There are many indications that obesity is a genetic disease which results when a variety of environmental factors act on multiple genes to influence our eating, metabolism and energy expenditure.1,2 During the past several years, researchers have linked mutations in five different genes (ob, db, tu ...
... There are many indications that obesity is a genetic disease which results when a variety of environmental factors act on multiple genes to influence our eating, metabolism and energy expenditure.1,2 During the past several years, researchers have linked mutations in five different genes (ob, db, tu ...
An Update on the Hereditary Spastic Paraplegias: New Genes and
... overlap with sets of genes previously implicated in three neurodegenerative diseases: amyotrophic lateral sclerosis; Alzheimer’s disease; and Parkinson’s disease. This study was able to identify a large number of novel HSP genes that appear to converge on several key biological pathways. Some of the ...
... overlap with sets of genes previously implicated in three neurodegenerative diseases: amyotrophic lateral sclerosis; Alzheimer’s disease; and Parkinson’s disease. This study was able to identify a large number of novel HSP genes that appear to converge on several key biological pathways. Some of the ...
Novel p53 mutants selected in BRCA
... of p21Waf1. However, the same mutant not only fails to suppress transformation of primary rat embryo ®broblasts (REFs), perhaps by virtue of compromised ability to transactivate Bax or other p53 target genes, but also demonstrates a modest gain of function transforming phenotype (Crook et al., 1994; ...
... of p21Waf1. However, the same mutant not only fails to suppress transformation of primary rat embryo ®broblasts (REFs), perhaps by virtue of compromised ability to transactivate Bax or other p53 target genes, but also demonstrates a modest gain of function transforming phenotype (Crook et al., 1994; ...
Azza Ahmed Ibrahim Abo senna_GST paper
... children. The etiology of acute leukemia is unknown, although many conditions may influence its development. Like many other cancers, acute leukemia is considered to be a complex disease, which is determined by combination of genetic and environmental factors (Arruda et al., 2001). DNA damage in the ...
... children. The etiology of acute leukemia is unknown, although many conditions may influence its development. Like many other cancers, acute leukemia is considered to be a complex disease, which is determined by combination of genetic and environmental factors (Arruda et al., 2001). DNA damage in the ...
Genetic dissection of Helicobacter pylori AddAB role in homologous
... DNA damage. Inactivation of the AddAB complex made the strain as sensitive as a recA mutant and its combination with a recO mutation did not increase the sensitivity, strongly suggesting that in H. pylori, all recombinational repair of IRinduced lesions, mostly ds breaks, is mediated by AddAB. These ...
... DNA damage. Inactivation of the AddAB complex made the strain as sensitive as a recA mutant and its combination with a recO mutation did not increase the sensitivity, strongly suggesting that in H. pylori, all recombinational repair of IRinduced lesions, mostly ds breaks, is mediated by AddAB. These ...
Journal of Bacteriology
... Instability of mutations in gacA and gacS. The stable phase II mutant PCL1574 could be complemented to the phase I phenotype by using pMP5562 (gacS) (Table 2); complementation of PCL1572 (gacS::Tn5luxAB) by using the gacS gene isolated from PCL1574 resulted in a mixture of phase I and phase II colon ...
... Instability of mutations in gacA and gacS. The stable phase II mutant PCL1574 could be complemented to the phase I phenotype by using pMP5562 (gacS) (Table 2); complementation of PCL1572 (gacS::Tn5luxAB) by using the gacS gene isolated from PCL1574 resulted in a mixture of phase I and phase II colon ...
19. - 21. März 2014 in Essen - Deutsche Gesellschaft für
... Prof. Dr. rer. nat. Bernhard Horsthemke, Essen Prof. Dr. med. Dietmar Lohmann, Essen Prof. Dr. med. Klaus Zerres, Aachen Prof. Dr. rer. nat. Kerstin Kutsche, Hamburg Prof. Dr. med. Jürgen Kohlhase, Freiburg Prof. Dr. med. Michael Speicher, Graz Prof. Dr. med. Wolfgang Berger, Zürich Prof. Dr. med. G ...
... Prof. Dr. rer. nat. Bernhard Horsthemke, Essen Prof. Dr. med. Dietmar Lohmann, Essen Prof. Dr. med. Klaus Zerres, Aachen Prof. Dr. rer. nat. Kerstin Kutsche, Hamburg Prof. Dr. med. Jürgen Kohlhase, Freiburg Prof. Dr. med. Michael Speicher, Graz Prof. Dr. med. Wolfgang Berger, Zürich Prof. Dr. med. G ...
Oncogenomics
Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.