Chapter 1
... with slight aniso and poik, including target cells and elliptocytes; May see basophilic stippling. Rarely see hepatomegaly or splenomegaly. Have high Hb A2 levels (3.5-8.0%) and normal to slightly elevated Hb F levels. Are different variations of this form depending upon which gene has mutated. Norm ...
... with slight aniso and poik, including target cells and elliptocytes; May see basophilic stippling. Rarely see hepatomegaly or splenomegaly. Have high Hb A2 levels (3.5-8.0%) and normal to slightly elevated Hb F levels. Are different variations of this form depending upon which gene has mutated. Norm ...
Thrombocytosis, Polycythemia Vera, and JAK2 Mutations
... and an exaggeration of normal hematopoiesis modified to a variable extent by less well-defined genetic and epigenetic influences. Polycythemia vera, the most common of the 3 disorders, differs from its companion disorders because only erythrocytosis occurs in it and diagnosis depends on evidence of ...
... and an exaggeration of normal hematopoiesis modified to a variable extent by less well-defined genetic and epigenetic influences. Polycythemia vera, the most common of the 3 disorders, differs from its companion disorders because only erythrocytosis occurs in it and diagnosis depends on evidence of ...
Increased sex chromosome expression and epigenetic
... 2006). However, the X and Y chromosomes are continually remodelled during the transition between meiosis and spermiogenesis, and histone modifications associated with transcriptionally active chromatin [e.g. histone acetylation and histone H3 dimethylated on lysine 4 (H3K4me2)] are also enriched on ...
... 2006). However, the X and Y chromosomes are continually remodelled during the transition between meiosis and spermiogenesis, and histone modifications associated with transcriptionally active chromatin [e.g. histone acetylation and histone H3 dimethylated on lysine 4 (H3K4me2)] are also enriched on ...
Evidence that MEK1 positively promotes
... could in theory be used as a template (5). Repair and interhomologue crossovers can be rescued by over-expressing either RAD51 or RAD54, or by deleting the Rad51 inhibitor HED1 (6–9). Rad51 in vegetative cells can bring about strand invasion with the sister chromatid, but this is inhibited during me ...
... could in theory be used as a template (5). Repair and interhomologue crossovers can be rescued by over-expressing either RAD51 or RAD54, or by deleting the Rad51 inhibitor HED1 (6–9). Rad51 in vegetative cells can bring about strand invasion with the sister chromatid, but this is inhibited during me ...
Mutations at the Darkener of apricot Locus Modulate Transcript
... white"P*Ot (UP) allele and increase the accumulation of white promoter-initiated transcripts encoding functional mRNA. We show here that quantities of transcripts initiatedin both long terminal repeats (LTRs) of thespecific UP-copia element are increased, and those initiating in the 5' LTR of the a ...
... white"P*Ot (UP) allele and increase the accumulation of white promoter-initiated transcripts encoding functional mRNA. We show here that quantities of transcripts initiatedin both long terminal repeats (LTRs) of thespecific UP-copia element are increased, and those initiating in the 5' LTR of the a ...
1 Article: Investigation Evidence for Stabilizing Selection on Codon
... Standard models of selection on codon usage predict that the intensity of selection scales with Ne (Li 1987; Bulmer 1991).Within a species, Ne can vary within the genome of a species due to differences in recombination rates across chromosomes and the effects of background selection. Regions of the ...
... Standard models of selection on codon usage predict that the intensity of selection scales with Ne (Li 1987; Bulmer 1991).Within a species, Ne can vary within the genome of a species due to differences in recombination rates across chromosomes and the effects of background selection. Regions of the ...
Brassinosteroids Rescue the Deficiency of CYP90, a Cytochrome
... fus mutants are not altered by the hy mutations of photoreceptors (Quail et al., 1995). Nonetheless, because these mutations have severe pleiotropic effects, it is likely that the DET, COP, and FUS genes play a more general role in transcriptional regulation (Millar et al., 1994). In support of this ...
... fus mutants are not altered by the hy mutations of photoreceptors (Quail et al., 1995). Nonetheless, because these mutations have severe pleiotropic effects, it is likely that the DET, COP, and FUS genes play a more general role in transcriptional regulation (Millar et al., 1994). In support of this ...
Chapter 29 Slides
... Genetic Information Can Be Transferred Between Bacteria • In 1946, Lederberg and Tatum showed that two different strains of bacteria with different growth requirements could exchange genes • Lederberg and Tatum surmised that the bacterial cells must interact with each other - the process is now know ...
... Genetic Information Can Be Transferred Between Bacteria • In 1946, Lederberg and Tatum showed that two different strains of bacteria with different growth requirements could exchange genes • Lederberg and Tatum surmised that the bacterial cells must interact with each other - the process is now know ...
Complete comparative genomic analysis of two field isolates of
... Analysis of all variations showed that 398 point mutations, six insertions totalling 30 bp and 20 deletions totalling 1326 bp occur in predicted ORFs; 65 point mutations, three insertions (13 bp) and five deletions (102 bp) occur in intergenic regions; and 58 point mutations, two insertions (79 bp) ...
... Analysis of all variations showed that 398 point mutations, six insertions totalling 30 bp and 20 deletions totalling 1326 bp occur in predicted ORFs; 65 point mutations, three insertions (13 bp) and five deletions (102 bp) occur in intergenic regions; and 58 point mutations, two insertions (79 bp) ...
Structure-Function Analysis of the Conserved Histone Chaperone
... Chromatin structure is crucial to regulate access to the genome for processes such as transcription, recombination, DNA repair, and DNA replication. Spt6, a key factor involved in regulating chromatin struct ...
... Chromatin structure is crucial to regulate access to the genome for processes such as transcription, recombination, DNA repair, and DNA replication. Spt6, a key factor involved in regulating chromatin struct ...
Conjugative plasmids: vessels of the communal gene pool
... The ability of genomic information to flow successfully between prokaryotes is not solely because of their propensity to coexist within highly heterogenic multi-species communities or the separation of their individual genomes by lipid membranes. A highly contributing factor to the extent of HGT is ...
... The ability of genomic information to flow successfully between prokaryotes is not solely because of their propensity to coexist within highly heterogenic multi-species communities or the separation of their individual genomes by lipid membranes. A highly contributing factor to the extent of HGT is ...
Conjugative plasmids: vessels of the communal gene pool
... The ability of genomic information to flow successfully between prokaryotes is not solely because of their propensity to coexist within highly heterogenic multi-species communities or the separation of their individual genomes by lipid membranes. A highly contributing factor to the extent of HGT is ...
... The ability of genomic information to flow successfully between prokaryotes is not solely because of their propensity to coexist within highly heterogenic multi-species communities or the separation of their individual genomes by lipid membranes. A highly contributing factor to the extent of HGT is ...
8. Principles of Genetics and Cytogenetics
... Historical background of genetics, theories and hypothesis. Physical basis of heredity, cell reproduction, mitosis, meiosis and its significance. Gametogenesis and syngamy in plants. Mendelian genetics–Mendel’s principles of heredity, deviation from Mendelian inheritance, pleiotropy, threshold chara ...
... Historical background of genetics, theories and hypothesis. Physical basis of heredity, cell reproduction, mitosis, meiosis and its significance. Gametogenesis and syngamy in plants. Mendelian genetics–Mendel’s principles of heredity, deviation from Mendelian inheritance, pleiotropy, threshold chara ...
Genome-Wide Identification of Allelic Expression in Hypertensive
... Genomic SSLP data were available for 2 SHR lines (SHR/OlaHsd and SHRSP/Riv) and 1 WKY line (WKY/OlaHsd). These lines are closely related to, and may be identical to, the SHR/NCrl, SHR-A3, and WKY/NCrl lines, respectively, used in our studies. We used this data to assess the degree of allelic identit ...
... Genomic SSLP data were available for 2 SHR lines (SHR/OlaHsd and SHRSP/Riv) and 1 WKY line (WKY/OlaHsd). These lines are closely related to, and may be identical to, the SHR/NCrl, SHR-A3, and WKY/NCrl lines, respectively, used in our studies. We used this data to assess the degree of allelic identit ...
Genome-Wide Identification of Allelic Expression in Hypertensive Rats
... Genomic SSLP data were available for 2 SHR lines (SHR/OlaHsd and SHRSP/Riv) and 1 WKY line (WKY/OlaHsd). These lines are closely related to, and may be identical to, the SHR/NCrl, SHR-A3, and WKY/NCrl lines, respectively, used in our studies. We used this data to assess the degree of allelic identit ...
... Genomic SSLP data were available for 2 SHR lines (SHR/OlaHsd and SHRSP/Riv) and 1 WKY line (WKY/OlaHsd). These lines are closely related to, and may be identical to, the SHR/NCrl, SHR-A3, and WKY/NCrl lines, respectively, used in our studies. We used this data to assess the degree of allelic identit ...
Structure, expression and chromosomal location of the Oct
... the relevant parental t-haplotypes. This lack of polymorphism was not unexpected because all t-haplotypes are generally believed to be descended from a single ancestral chromosome. Another approach to examine the relationship between Oct-4 and t 12 is to analyze the genomic structure and sequence of ...
... the relevant parental t-haplotypes. This lack of polymorphism was not unexpected because all t-haplotypes are generally believed to be descended from a single ancestral chromosome. Another approach to examine the relationship between Oct-4 and t 12 is to analyze the genomic structure and sequence of ...
Charcot-Marie
... dominant (AD). This type of inheritance is the most common type in CMT 1 and CMT 2. We all have two copies of every gene and in AD inheritance, the affected person has one abnormal gene and one normal gene. Each child will only inherit one gene from an affected parent (the other gene will come from ...
... dominant (AD). This type of inheritance is the most common type in CMT 1 and CMT 2. We all have two copies of every gene and in AD inheritance, the affected person has one abnormal gene and one normal gene. Each child will only inherit one gene from an affected parent (the other gene will come from ...
Genetic analysis of non-syndromic craniosynostosis
... different genes as in the cases of Pfeiffer syndrome that are due to FGFR1 and FGFR2 mutations (19, 48). Despite these reports, an astute observer should keep in mind the possibility of clinical misclassification, due to atypical patients with overlapping features or, less likely, errors in clinical ...
... different genes as in the cases of Pfeiffer syndrome that are due to FGFR1 and FGFR2 mutations (19, 48). Despite these reports, an astute observer should keep in mind the possibility of clinical misclassification, due to atypical patients with overlapping features or, less likely, errors in clinical ...
Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy
... with either (i) a well-defined influence on enzyme function or (ii) a clear relationship between the variant and an observable influence on drug pharmacokinetics, pharmacodynamics, or toxicology.8 The rationale is that, when there is a clear, mechanistic, cause–effect relationship between the varia ...
... with either (i) a well-defined influence on enzyme function or (ii) a clear relationship between the variant and an observable influence on drug pharmacokinetics, pharmacodynamics, or toxicology.8 The rationale is that, when there is a clear, mechanistic, cause–effect relationship between the varia ...
Complementary hierarchical clustering
... expressed genes that have closely related expression patterns. Sometimes, these genes may not be relevant to the biological process under study or their functions may already be known. The problem is that these genes can potentially drown out the effects of other genes that are relevant or have nove ...
... expressed genes that have closely related expression patterns. Sometimes, these genes may not be relevant to the biological process under study or their functions may already be known. The problem is that these genes can potentially drown out the effects of other genes that are relevant or have nove ...
The tightly regulated promoter of the xanA gene of
... we have shown that the one from Neurospora crassa fully complements a xanA deletion (Cultrone et al., 2005). In this article we investigate whether this gene is subject to the same regulatory signals as all other enzymes of the purine degradation pathway. We observed that the promoter element of xan ...
... we have shown that the one from Neurospora crassa fully complements a xanA deletion (Cultrone et al., 2005). In this article we investigate whether this gene is subject to the same regulatory signals as all other enzymes of the purine degradation pathway. We observed that the promoter element of xan ...
Exploratory data analysis for microarray data
... ❍ Data should be normalized and transformed to appropriate scale before clustering (log or generalized log (R package vsn)). ❍ Clustering genes: Standardization of gene vectors or the use of the correlation distance is useful when looking for patterns of relative changes - independent of their magni ...
... ❍ Data should be normalized and transformed to appropriate scale before clustering (log or generalized log (R package vsn)). ❍ Clustering genes: Standardization of gene vectors or the use of the correlation distance is useful when looking for patterns of relative changes - independent of their magni ...
molecular genetics of tibial muscular dystrophy (tmd) and - E
... clumsiness with the hands and stumbling around the age of 30. The thenar and hypothenar muscles of the palms are involved at onset. The disease progresses to other hand muscles, to the lower legs, the forearm muscles, and later to the proximal muscles. This phenotype is distinct from the previously ...
... clumsiness with the hands and stumbling around the age of 30. The thenar and hypothenar muscles of the palms are involved at onset. The disease progresses to other hand muscles, to the lower legs, the forearm muscles, and later to the proximal muscles. This phenotype is distinct from the previously ...
Problem Sets - MIT Biology
... dominant phenotypes were used (and these cannot be used in complementation tests), or strains that were not true-breeding were used. Using strains that are not true-breeding is not the proper way to do a complementation test, because then multiple genotypes and phenotypes are produced instead of jus ...
... dominant phenotypes were used (and these cannot be used in complementation tests), or strains that were not true-breeding were used. Using strains that are not true-breeding is not the proper way to do a complementation test, because then multiple genotypes and phenotypes are produced instead of jus ...
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.