Cystic fibrosis and infertility caused by congenital
... abnormalities that shift the open reading frame (e.g. 621 + 1G —> T) or missense mutations (G542X replacing glycine at amino acid position 542 with a stop codon). In general, little or no CFTR protein is formed. Class II mutations result in defective CFTR protein processing. These mutations, includi ...
... abnormalities that shift the open reading frame (e.g. 621 + 1G —> T) or missense mutations (G542X replacing glycine at amino acid position 542 with a stop codon). In general, little or no CFTR protein is formed. Class II mutations result in defective CFTR protein processing. These mutations, includi ...
Novel pathogen-specific primers for the detection of Agrobacterium
... crown gall (BURR et al. 1998). Besides A. vitis, Agrobacterium tumefaciens may also occur on grapevines as causative agent of crown gall disease (SZEGEDI et al. 2005). The polymerase chain reaction (PCR) has widely been used to test for the presence of various plant pathogens to select clean plant m ...
... crown gall (BURR et al. 1998). Besides A. vitis, Agrobacterium tumefaciens may also occur on grapevines as causative agent of crown gall disease (SZEGEDI et al. 2005). The polymerase chain reaction (PCR) has widely been used to test for the presence of various plant pathogens to select clean plant m ...
LIST OF CHECK-UP QUESTIONS for
... 8. A human has galactosemia — a disease of accumulation. Which genetic method can we use to diagnose the case? a) Cytogenetic. b) Biochemical. CORRECT c) Population-statistical. d) Pedigree analysis. 9. The intensity of human skin pigmentation is controlled by a few pairs of non-allelic dominant gen ...
... 8. A human has galactosemia — a disease of accumulation. Which genetic method can we use to diagnose the case? a) Cytogenetic. b) Biochemical. CORRECT c) Population-statistical. d) Pedigree analysis. 9. The intensity of human skin pigmentation is controlled by a few pairs of non-allelic dominant gen ...
Restless Legs Syndrome
... Putting this into perspective: • A PAR of 0.5 for BTBD9 implies that it is causative in 50% of RLS cases – this is a level unprecedented for a common disease. • The genetic contribution of BTBD9 to RLS approximates that of the ApoE4 allele association to Alzheimer’s disease. • The results are extre ...
... Putting this into perspective: • A PAR of 0.5 for BTBD9 implies that it is causative in 50% of RLS cases – this is a level unprecedented for a common disease. • The genetic contribution of BTBD9 to RLS approximates that of the ApoE4 allele association to Alzheimer’s disease. • The results are extre ...
Familial Malignant Melanoma Approved by the Cancer.Net Editorial
... these genes gives a person an increased risk of melanoma. However, alterations in these two genes only account for a small percentage of familial melanoma. CDKN2A is unusual because it affects two separate proteins that have different functions; one is called p16, and one is called p14ARF. Both CDKN ...
... these genes gives a person an increased risk of melanoma. However, alterations in these two genes only account for a small percentage of familial melanoma. CDKN2A is unusual because it affects two separate proteins that have different functions; one is called p16, and one is called p14ARF. Both CDKN ...
Optimality models of phage life history and parallels in
... the disagreement nor much attempt at resolution. Perhaps the main reason for this stalemate is that the potential problems with the use of optimality models lie in the genetic architecture of the phenotypes being modeled, and there are few phenotypes for which we know the details well enough to eval ...
... the disagreement nor much attempt at resolution. Perhaps the main reason for this stalemate is that the potential problems with the use of optimality models lie in the genetic architecture of the phenotypes being modeled, and there are few phenotypes for which we know the details well enough to eval ...
Human mutations in glucose 6-phosphate dehydrogenase reflect
... phenotype), or life-long hemolytic anemia (referred to hereafter as severe phenotype) (2). Among 122 variants characterized at the molecular level, those with severe phenotype are all rare, but those with mild phenotype have become common in many populations as a result of malaria selection (1). G6P ...
... phenotype), or life-long hemolytic anemia (referred to hereafter as severe phenotype) (2). Among 122 variants characterized at the molecular level, those with severe phenotype are all rare, but those with mild phenotype have become common in many populations as a result of malaria selection (1). G6P ...
Intellectual property rights and innovation: Evidence from
... of Celera’s IP across the human genome over time, linked to gene-level measures of scientific research and product development outcomes. Whereas in most contexts it is not straightforward to trace the path of basic scientific discoveries as they are translated into marketable products, I am able to ...
... of Celera’s IP across the human genome over time, linked to gene-level measures of scientific research and product development outcomes. Whereas in most contexts it is not straightforward to trace the path of basic scientific discoveries as they are translated into marketable products, I am able to ...
Natural Variation in Sensitivity to a Loss of Chloroplast Translation in
... Mutations that eliminate chloroplast translation in Arabidopsis (Arabidopsis thaliana) result in embryo lethality. The stage of embryo arrest, however, can be influenced by genetic background. To identify genes responsible for improved growth in the absence of chloroplast translation, we examined see ...
... Mutations that eliminate chloroplast translation in Arabidopsis (Arabidopsis thaliana) result in embryo lethality. The stage of embryo arrest, however, can be influenced by genetic background. To identify genes responsible for improved growth in the absence of chloroplast translation, we examined see ...
Computational Definition of
... We have used a computational approach to identify ESEs and ESSs associated with constitutively spliced exons. We focused on constitutive splicing as opposed to alternative splicing so as to tackle the more fundamental problem represented by the former and to avoid what are likely more complex mechan ...
... We have used a computational approach to identify ESEs and ESSs associated with constitutively spliced exons. We focused on constitutive splicing as opposed to alternative splicing so as to tackle the more fundamental problem represented by the former and to avoid what are likely more complex mechan ...
Mendel and modern genetics: the legacy for today
... forms, and represents homozygotes symbolically with only a single letter (such as A for the dominant parent or a for the recessive), whereas he always represents the hybrids with two letters (e.g. Aa). Thus, he consistently shows the results of a monohybrid cross as A þ 2Aa þ a. A careful re-reading ...
... forms, and represents homozygotes symbolically with only a single letter (such as A for the dominant parent or a for the recessive), whereas he always represents the hybrids with two letters (e.g. Aa). Thus, he consistently shows the results of a monohybrid cross as A þ 2Aa þ a. A careful re-reading ...
gsea user guide
... dataset. This prevents flat genes from driving the clustering result and improves processing time by focusing on a smaller number of interesting genes. The GSEA algorithm does not filter the expression dataset and does not benefit from your filtering of the expression dataset. During the analysis, g ...
... dataset. This prevents flat genes from driving the clustering result and improves processing time by focusing on a smaller number of interesting genes. The GSEA algorithm does not filter the expression dataset and does not benefit from your filtering of the expression dataset. During the analysis, g ...
Mendel and modern genetics: the legacy for today
... forms, and represents homozygotes symbolically with only a single letter (such as A for the dominant parent or a for the recessive), whereas he always represents the hybrids with two letters (e.g. Aa). Thus, he consistently shows the results of a monohybrid cross as A þ 2Aa þ a. A careful re-reading ...
... forms, and represents homozygotes symbolically with only a single letter (such as A for the dominant parent or a for the recessive), whereas he always represents the hybrids with two letters (e.g. Aa). Thus, he consistently shows the results of a monohybrid cross as A þ 2Aa þ a. A careful re-reading ...
Instruction Manual for “ChromoPainter: a copying model for
... and (3) a genetic-map representing the recombination distance between each pair of contiguous SNPs. (Note that (3) is only necessary if the data is not specified as “unlinked” using the ’-u’ switch, which we highly recommend to substantially increase power – see below.) It then uses a Hidden Markov ...
... and (3) a genetic-map representing the recombination distance between each pair of contiguous SNPs. (Note that (3) is only necessary if the data is not specified as “unlinked” using the ’-u’ switch, which we highly recommend to substantially increase power – see below.) It then uses a Hidden Markov ...
SHY2/IAA3 regulates root development
... Accepted 24 November 1998; published on WWW 20 January 1999 ...
... Accepted 24 November 1998; published on WWW 20 January 1999 ...
Melanic Coat Color Variation in Rock Pocket Mice
... are perfectly associated with coat color (Hoekstra and Nachman, 2003). The four mutations are at amino acid numbers 18, 109, 160, and 233 (Nachman, Hoekstra, and D’Agostino, 2003). Mice with one or two copies of the melanic allele are melanic, while mice without this allele are light; dark alleles a ...
... are perfectly associated with coat color (Hoekstra and Nachman, 2003). The four mutations are at amino acid numbers 18, 109, 160, and 233 (Nachman, Hoekstra, and D’Agostino, 2003). Mice with one or two copies of the melanic allele are melanic, while mice without this allele are light; dark alleles a ...
mMESSAGE mMACHINE® Kit User Guide
... mMACHINE® Kit reactions include cap analog [m7G(5')ppp(5')G] in an ultra highyield transcription reaction. The cap analog is incorporated only as the first or 5' terminal G of the transcript because its structure precludes its incorporation at any other position in the RNA molecule. mMESSAGE mMACHIN ...
... mMACHINE® Kit reactions include cap analog [m7G(5')ppp(5')G] in an ultra highyield transcription reaction. The cap analog is incorporated only as the first or 5' terminal G of the transcript because its structure precludes its incorporation at any other position in the RNA molecule. mMESSAGE mMACHIN ...
Molecular Biology Reports
... Lycopene is the substrate for two competing lycopene cyclases, lycopene e-cyclase (LCY-e) and lycopene betacyclase (LCY-b). LCY-e introduces a single epsilon-ring into lycopene to produce d-carotene, and LCY-b introduces one or two beta-rings at either end of lycopene to produce b-carotene. Two caro ...
... Lycopene is the substrate for two competing lycopene cyclases, lycopene e-cyclase (LCY-e) and lycopene betacyclase (LCY-b). LCY-e introduces a single epsilon-ring into lycopene to produce d-carotene, and LCY-b introduces one or two beta-rings at either end of lycopene to produce b-carotene. Two caro ...
Genetic Factors Affecting Facial Growth
... gene is a specific sequence of information that provides the instructions for making a unique protein or set of related proteins. The location or “address” for any gene within a genome is called its locus (plural loci: i.e., referring to the physical location of more than one gene). A determination ...
... gene is a specific sequence of information that provides the instructions for making a unique protein or set of related proteins. The location or “address” for any gene within a genome is called its locus (plural loci: i.e., referring to the physical location of more than one gene). A determination ...
Toward a therapy for mitochondrial disease
... AAV vectors are currently the most widely used vectors for gene therapy in humans because of several advantages, including the fact that they remain episomic, thus reducing the risk of insertional mutagenesis [31] and that an ever-expanding number of natural and engineered serotypes targeting differ ...
... AAV vectors are currently the most widely used vectors for gene therapy in humans because of several advantages, including the fact that they remain episomic, thus reducing the risk of insertional mutagenesis [31] and that an ever-expanding number of natural and engineered serotypes targeting differ ...
Embryonic Development following Somatic Cell
... Identification of Reprogramming Resistant Regions in 2-Cell SCNT Embryos In addition to protein coding genes, previous studies have revealed that nongenic repetitive elements, such as LTR class III retrotransposons and major satellite repeats, are highly expressed in mouse preimplantation embryos, e ...
... Identification of Reprogramming Resistant Regions in 2-Cell SCNT Embryos In addition to protein coding genes, previous studies have revealed that nongenic repetitive elements, such as LTR class III retrotransposons and major satellite repeats, are highly expressed in mouse preimplantation embryos, e ...
Operon review
... Is the repressor produced in an active or inactive form? What conditions are necessary for the repressor protein to become ACTIVE? ...
... Is the repressor produced in an active or inactive form? What conditions are necessary for the repressor protein to become ACTIVE? ...
ACTIN-RELATED PROTEIN6 Regulates Female Meiosis By
... ACTIN-RELATED PROTEIN6 (ARP6), one of the nonessential subunits of the yeast SWR1 complex, is required for normal growth of yeast. In the yeast SWR1 complex, ARP6 facilitates binding between other subunits, such as Swc2, and the ATPase domain of SWR1. In Arabidopsis, ARP6 acts in the nucleus (Deal e ...
... ACTIN-RELATED PROTEIN6 (ARP6), one of the nonessential subunits of the yeast SWR1 complex, is required for normal growth of yeast. In the yeast SWR1 complex, ARP6 facilitates binding between other subunits, such as Swc2, and the ATPase domain of SWR1. In Arabidopsis, ARP6 acts in the nucleus (Deal e ...
Site-specific recombinase technology
Nearly every human gene has a counterpart in the mouse (regardless of the fact that a minor set of orthologues had to follow species specific selection routes). This made the mouse the major model for elucidating the ways in which our genetic material encodes information. In the late 1980s gene targeting in murine embryonic stem (ES-)cells enabled the transmission of mutations into the mouse germ line and emerged as a novel option to study the genetic basis of regulatory networks as they exist in the genome. Still, classical gene targeting proved to be limited in several ways as gene functions became irreversibly destroyed by the marker gene that had to be introduced for selecting recombinant ES cells. These early steps led to animals in which the mutation was present in all cells of the body from the beginning leading to complex phenotypes and/or early lethality. There was a clear need for methods to restrict these mutations to specific points in development and specific cell types. This dream became reality when groups in the USA were able to introduce bacteriophage and yeast-derived site-specific recombination (SSR-) systems into mammalian cells as well as into the mouse