Fanconi anemia and RAD50 deficiency: genetic and functional
... Basic research involving human chromosomal instability and cancer susceptibility syndromes is necessary to gain insights into molecular mechanisms which maintain genomic integrity. The focus of this thesis is directed at the molecular, cellular and clinical aspects of two groups of inherited disease ...
... Basic research involving human chromosomal instability and cancer susceptibility syndromes is necessary to gain insights into molecular mechanisms which maintain genomic integrity. The focus of this thesis is directed at the molecular, cellular and clinical aspects of two groups of inherited disease ...
Alternative Splicing in Higher Plants
... splicing of exons 9 and 12 – Recent multivariate analysis has supported the intuitive idea that longer genes with higher numbers of introns are more likely to lead to splicing defects – Proposed that between 15 and 60% of hereditary diseases are due to splicing mutations – Diseases known to be cause ...
... splicing of exons 9 and 12 – Recent multivariate analysis has supported the intuitive idea that longer genes with higher numbers of introns are more likely to lead to splicing defects – Proposed that between 15 and 60% of hereditary diseases are due to splicing mutations – Diseases known to be cause ...
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... (L1425). The detectable phenotype in heterozygous embryos (not reported in human patients or the mouse model) suggests L1429R to be highly deleterious. Importantly, the phenotype was considerably variable from clutch to clutch, indicating that external factors can influence the extent of ectopic min ...
... (L1425). The detectable phenotype in heterozygous embryos (not reported in human patients or the mouse model) suggests L1429R to be highly deleterious. Importantly, the phenotype was considerably variable from clutch to clutch, indicating that external factors can influence the extent of ectopic min ...
Expression and characterization of von Willebrand
... structure and absence of HMWM from both plasma and platelets. The fastest migrating electrophoretic band was not pronounced12 (Figure 1), which is in contrast to findings in vWD 2A/IIC. The markedly reduced vWF:Ag levels in the patient and the low-normal vWF:Ag levels in the patient’s mother suggest ...
... structure and absence of HMWM from both plasma and platelets. The fastest migrating electrophoretic band was not pronounced12 (Figure 1), which is in contrast to findings in vWD 2A/IIC. The markedly reduced vWF:Ag levels in the patient and the low-normal vWF:Ag levels in the patient’s mother suggest ...
Surrogate Genetics and Metabolic Profiling for Characterization of
... human genetic diseases. Worldwide, 1 in 335,000 individuals are affected (Mudd et al. 1995), but the frequency approaches 1 in 1800 in certain populations (Gan-Schreier et al. 2010). A few well-characterized alleles of the gene encoding cystathionine b-synthase (CBS) correlate with disease symptoms, ...
... human genetic diseases. Worldwide, 1 in 335,000 individuals are affected (Mudd et al. 1995), but the frequency approaches 1 in 1800 in certain populations (Gan-Schreier et al. 2010). A few well-characterized alleles of the gene encoding cystathionine b-synthase (CBS) correlate with disease symptoms, ...
Engineered Cpf1 Enzymes with Altered PAM Specificities
... bioRxiv preprint first posted online Dec. 4, 2016; doi: http://dx.doi.org/10.1101/091611. The copyright holder for this preprint (which was not peer-reviewed) is the author/funder. It is made available under a CC-BY-NC-ND 4.0 International license. ...
... bioRxiv preprint first posted online Dec. 4, 2016; doi: http://dx.doi.org/10.1101/091611. The copyright holder for this preprint (which was not peer-reviewed) is the author/funder. It is made available under a CC-BY-NC-ND 4.0 International license. ...
The evolution of life cycles with haploid and diploid phases
... alleles are generally rare within a population, it is unlikely that a diploid produced by random mating will carry two mutant copies of an allele at a locus. By contrast, haploids express each and every mutation within their genome. Consequently, mutant individuals with a prolonged diploid phase sho ...
... alleles are generally rare within a population, it is unlikely that a diploid produced by random mating will carry two mutant copies of an allele at a locus. By contrast, haploids express each and every mutation within their genome. Consequently, mutant individuals with a prolonged diploid phase sho ...
Prader-Willi and Angelman syndromes: Sister imprinted disorders
... lack of expressed paternally inherited genes in chromosome 15q11-q13, whereas AS is caused by lack of a single expressed gene, UBE3A, from the maternally inherited chromosome 15. In this region, the maternally inherited genes related to PWS are normally not expressed, having been rendered inactive b ...
... lack of expressed paternally inherited genes in chromosome 15q11-q13, whereas AS is caused by lack of a single expressed gene, UBE3A, from the maternally inherited chromosome 15. In this region, the maternally inherited genes related to PWS are normally not expressed, having been rendered inactive b ...
Understanding iron homeostasis through genetic
... At the time of its cloning the function of TFR2 was even more obscure than that of HFE. Based on the sequence homology with TFR1 and its ability to bind transferrin, it was initially considered an iron uptaker.32 However, TFR2 is not iron-regulated because it has no iron-responsive elements (IREs), ...
... At the time of its cloning the function of TFR2 was even more obscure than that of HFE. Based on the sequence homology with TFR1 and its ability to bind transferrin, it was initially considered an iron uptaker.32 However, TFR2 is not iron-regulated because it has no iron-responsive elements (IREs), ...
Collagens, modifying enzymes and their mutations in humans, flies
... triple-helical domain to produce a more severe phenotype than a similar substitution that is closer to the N-terminal end [1,3]. There are numerous exceptions to this rule, however, which are probably explained by the fact that the triple helix has regions of high and low stability as determined by ...
... triple-helical domain to produce a more severe phenotype than a similar substitution that is closer to the N-terminal end [1,3]. There are numerous exceptions to this rule, however, which are probably explained by the fact that the triple helix has regions of high and low stability as determined by ...
Annotation Strategy Guide - GEP Community Server
... contig47. The CDS 1_3529_0 has a total length of 117 amino acids in D. melanogaster. Step 1: I performed a tblastn search with the CDS 1_3529_0 from Or13a as the query against the nucleotide sequence from contig47. This did not produce any significant hits in the correct orientation (i.e. on the for ...
... contig47. The CDS 1_3529_0 has a total length of 117 amino acids in D. melanogaster. Step 1: I performed a tblastn search with the CDS 1_3529_0 from Or13a as the query against the nucleotide sequence from contig47. This did not produce any significant hits in the correct orientation (i.e. on the for ...
Atlas of Genetics and Cytogenetics in Oncology and Haematology Scope
... (infections, haemorrhages), leukaemia, or solid cancer. It has recently been shown that significant phenotypic differences were found between the various complementation groups. In FA group A, patients homozygous for null mutations had an earlier onset of anemia and a higher incidence of leukemia th ...
... (infections, haemorrhages), leukaemia, or solid cancer. It has recently been shown that significant phenotypic differences were found between the various complementation groups. In FA group A, patients homozygous for null mutations had an earlier onset of anemia and a higher incidence of leukemia th ...
How to test for complementation between mutant strains. David D. Perkins Background
... to test for het-compatibility with Oak Ridge strains is to determine whether the strain in question can complement helper-1 (Perkins 1984) or another of the available N. crassa helper strains. These all have forcing markers in OR background, and they are all het-compatible with both mating types. (S ...
... to test for het-compatibility with Oak Ridge strains is to determine whether the strain in question can complement helper-1 (Perkins 1984) or another of the available N. crassa helper strains. These all have forcing markers in OR background, and they are all het-compatible with both mating types. (S ...
Classification of Hypotheses on the Advantage of Amphimixis
... All three hypotheses claim that there is some nonreciprocal genetic process associated with chromosome conjugation, which, in contrast to harmful conventional nonreciprocal processes (Crow 1991), is beneficial, because the cell can distinguish between good and bad. Of course, hypotheses 1 and 2 cann ...
... All three hypotheses claim that there is some nonreciprocal genetic process associated with chromosome conjugation, which, in contrast to harmful conventional nonreciprocal processes (Crow 1991), is beneficial, because the cell can distinguish between good and bad. Of course, hypotheses 1 and 2 cann ...
A New Sequencing Primer and Workflow Increase 5` Resolution and
... quality readable bases by base 25 after the sequencing primer while the new primers produced high quality bases by base 5, and by base 1 in many cases. Because of improved resolution, basecalling accuracy was increased. This simplified process without a separate PCR clean-up step reduced the overall ...
... quality readable bases by base 25 after the sequencing primer while the new primers produced high quality bases by base 5, and by base 1 in many cases. Because of improved resolution, basecalling accuracy was increased. This simplified process without a separate PCR clean-up step reduced the overall ...
Anticoagulant resistance in the Norway rat and Guidelines for the
... The infestation was eliminated by April 1959 but by September 1961 the farm was again reported to be heavily infested with rats. During this period tests were carried out at many sites where resistance was suspected or reported but in almost all cases the reason for lack of control was found to be p ...
... The infestation was eliminated by April 1959 but by September 1961 the farm was again reported to be heavily infested with rats. During this period tests were carried out at many sites where resistance was suspected or reported but in almost all cases the reason for lack of control was found to be p ...
Association of estrogen receptor β gene polymorphisms with bulimic
... So far, only a few variants of the ERb gene have been reported and characterized with regard to allele frequency.16–19 Rosenkranz et al16 performed a systematic mutation screening of ERb in probands of different weight extremes and identified five different genetic variants. Only two of these appear ...
... So far, only a few variants of the ERb gene have been reported and characterized with regard to allele frequency.16–19 Rosenkranz et al16 performed a systematic mutation screening of ERb in probands of different weight extremes and identified five different genetic variants. Only two of these appear ...
The Large Loop Repair and Mismatch Repair Pathways
... in the RAD1-dependent LLR pathway springs from the known enzymatic roles of those proteins during mitotic DNA repair and the observed effects on meiotic recombination and DNA repair upon deletion of the LLR genes (Kirkpatrick and Petes 1997). Given the characterized activities of Rad1/10p and Msh2/3 ...
... in the RAD1-dependent LLR pathway springs from the known enzymatic roles of those proteins during mitotic DNA repair and the observed effects on meiotic recombination and DNA repair upon deletion of the LLR genes (Kirkpatrick and Petes 1997). Given the characterized activities of Rad1/10p and Msh2/3 ...
3.1.molecular_evolution - T
... (or “clocklike”) and because selection does not influence the rate of divergence, divergence of DNA and protein molecules in two separate lineages should occur in a REGULAR, clocklike manner ...
... (or “clocklike”) and because selection does not influence the rate of divergence, divergence of DNA and protein molecules in two separate lineages should occur in a REGULAR, clocklike manner ...
Gene Section USP1 (ubiquitin specific peptidase 1) Atlas of Genetics and Cytogenetics
... USP1 gene encodes a 785 amino acid protein with a predicted molecular weight of 88,2 kDa (Fujiwara et al., 1998). USP1 belongs to the ubiquitin specific protease (USP) family of human deubiquitinases (DUBs). Like other members of its family, it harbours a highly conserved USP domain organization com ...
... USP1 gene encodes a 785 amino acid protein with a predicted molecular weight of 88,2 kDa (Fujiwara et al., 1998). USP1 belongs to the ubiquitin specific protease (USP) family of human deubiquitinases (DUBs). Like other members of its family, it harbours a highly conserved USP domain organization com ...
molecular genetics of tibial muscular dystrophy (tmd) and - E
... ribonucleic acid reverse transcription sarcoglycan sarcoglycan complex sporadic inclusion body myositis single nucleotide polymorphism single strand conformational polymorphism sequence tagged site tibialis anterior tibial muscular dystrophy titin gene deoxynucleotidyl transferase-mediated dUTP nick ...
... ribonucleic acid reverse transcription sarcoglycan sarcoglycan complex sporadic inclusion body myositis single nucleotide polymorphism single strand conformational polymorphism sequence tagged site tibialis anterior tibial muscular dystrophy titin gene deoxynucleotidyl transferase-mediated dUTP nick ...
new mottled allele - Chickencolours.com
... Minohiki-white is an allele of mottled, which gives a white chicken with some leakage when pure. Mottled is recessive and hardly visible in impure birds (mo/ Mo+), only chick down and sometimes also youth feathers will tell (white feather tips which moult away). Some breeds show impure mottled, like ...
... Minohiki-white is an allele of mottled, which gives a white chicken with some leakage when pure. Mottled is recessive and hardly visible in impure birds (mo/ Mo+), only chick down and sometimes also youth feathers will tell (white feather tips which moult away). Some breeds show impure mottled, like ...
REVIEW - Gastric Breast Cancer
... has not been established. Since a lot of personal, phycological and emotional data as well as confidentiality and insurance issues are not included in the direct medical consultation, decision whether a woman should be tested or not is strongly personal. Furthermore, decision-making among a variety ...
... has not been established. Since a lot of personal, phycological and emotional data as well as confidentiality and insurance issues are not included in the direct medical consultation, decision whether a woman should be tested or not is strongly personal. Furthermore, decision-making among a variety ...
Abdominal Aortic Aneurysms(AAA)
... - FBN1 mutations were linked to the majority of the cases of MFS - In addition, a distinct gene on chromosome 3p24 (TGFBR2) was linked to another family with MFS. ...
... - FBN1 mutations were linked to the majority of the cases of MFS - In addition, a distinct gene on chromosome 3p24 (TGFBR2) was linked to another family with MFS. ...
Melanocortin 1 recep
... candidate gene (Hoekstra 2006). However, it is likely that there is an ascertainment bias where positive results are more likely to be reported in this intronless gene which is relatively easy to sequence and analyse (Mundy 2005). Other key genes involved in pigmentation are more complex, for exampl ...
... candidate gene (Hoekstra 2006). However, it is likely that there is an ascertainment bias where positive results are more likely to be reported in this intronless gene which is relatively easy to sequence and analyse (Mundy 2005). Other key genes involved in pigmentation are more complex, for exampl ...
Frameshift mutation
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein. A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted. A frameshift mutation will in general cause the reading of the codons after the mutation to code for different amino acids. The frameshift mutation will also alter the first stop codon (""UAA"", ""UGA"" or ""UAG"") encountered in the sequence. The polypeptide being created could be abnormally short or abnormally long, and will most likely not be functional.Frameshift mutations are apparent in severe genetic diseases such as Tay-Sachs disease and Cystic Fibrosis; they increase susceptibility to certain cancers and classes of familial hypercholesterolaemia; in 1997, a frameshift mutation was linked to resistance to infection by the HIV retrovirus. Frameshift mutations have been proposed as a source of biological novelty, as with the alleged creation of nylonase, however, this interpretation is controversial. A study by Negoro et al (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the catalytic cleft of an ancestral esterase amplified Ald-hydrolytic activity.