Linkage effects on additive genetic variance among homozygous lines arising from the cross between two homozygous parents.
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Genetic Linkage↗
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An immortalized cystic fibrosis tracheal epithelial cell line homozygous for the delta F508 CFTR mutation.
The development of transformed human airway epithelial cell lines has been important in advancing the understanding of the biochemical and genetic mechanisms underlying the cystic fibrosis (CF) defect. Since the most common mutation associated with CF is a phenylalanine deletion at position 508 (delta F508) in the CF transmembrane conductance regulator (CFTR) gene, a transformed airway epithelial cell line homozygous for this mutation will be important for determining the biologic significance of this mutation in the airways. We report the genotypic and phenotypic characterization of a delta F508 homozygote cell line derived from luminal epithelium in the trachea. The cells were transformed with a plasmid containing an origin of replication defective SV40 genome and have progressed through crisis. Immunocytochemical characterization of the cells shows that they express keratin, indicating epithelial cell origin, and that a calcium-dependent cell adhesion molecule, cellCAM 120/80, is present at plasma membrane junctions between cells. Electrophysiologically, the cells show no cAMP-dependent Cl transport. However, after treatment with the calcium ionophore, ionomycin, cells secrete Cl, albeit at a lower level than that observed in normal cells. Genetically, the cells express CFTR mRNA as determined by polymerase chain reaction amplification and CFTR protein as determined by Western hybridization analysis. Karyotypic analysis shows that 70% of the cells contain two copies of chromosome 7.
Adult↗
[Genome analysis of transgenic homozygous line "Minghui 63-Xa21"].
By using rice SSRP, RAPD and AFLP molecular markers, the genome of rice transgenic line "Minghui 63-Xa21" was analyzed. 32 SSRP primers, 42 RAPD primers and 8 AFLP primers could produce obvious PCR bands in the analysis of at least 12 individual plants selected randomly from "Minghui 63-Xa21" T3 generation. Totally 550 PCR bands, equivalent to 550 genomic sites, were detected. Different individual plants of the transgenic homozygous line displayed almost the same PCR pattern. Compared with the control "Minghui 63", no difference was found in their PCR patterns. This indicated that the introduction of Xa21 into the genome of "Minghui 63" did not change these 550 genome sites and their heredity. Very few variant PCR bands were observed in some individual plants from both "Minghui 63-Xa21" and "Minghui 63". However, the variant percentage was equivalent between the transgenic line and the non-transgenic control line.
Chromosome Mapping↗
[Homostyly as an efficient tool for development of homozygous lines of buckwheat (Fagopyrum esculentum Moench)].
A genetic scheme of pollination in buckwheat Fagopyrum esculentum Moench and the specificity of work with its recessive mutations identified on the basis of heterostyly are considered. The possibility of obtaining a genetically determined donor of self-fertility on the basis of S1 allele controlling the development of the homostyle flower type in buckwheat is examined. The possibility of using homostyly as an efficient tool for the development of self-fertile homozygous lines and making their genetic analysis is also discussed.
Alleles↗
Simultaneous down-regulation of caffeic/5-hydroxy ferulic acid-O-methyltransferase I and cinnamoyl-coenzyme A reductase in the progeny from a cross between tobacco lines homozygous for each transgene. Consequences for plant development and lignin synthesis.
Inhibition of specific lignin biosynthetic steps by antisense strategy has previously been shown to alter lignin content and/or structure. In this work, homozygous tobacco (Nicotiana tabacum) lines transformed with cinnamoyl-coenzyme A reductase (CCR) or caffeic acid/5-hydroxy ferulic acid-O-methyltransferase I (COMT I) antisense sequences have been crossed and enzyme activities, lignin synthesis, and cell wall structure of the progeny have been analyzed. In single transformed parents, CCR inhibition did not affect COMT I expression, whereas marked increases in CCR activity were observed in COMT I antisense plants, suggesting potential cross talk between some genes of the pathway. In the progeny, both CCR and COMT I activities were shown to be markedly decreased due to the simultaneous repression of the two genes. In these double transformants, the lignin profiles were dependent on the relative extent of down-regulation of each individual enzyme. For the siblings issued from a strongly repressed antisense CCR parent, the lignin patterns mimicked the patterns obtained in single transformants with a reduced CCR activity. In contrast, the specific lignin profile of COMT I repression could not be detected in double transformed siblings. By transmission electron microscopy some cell wall loosening was detected in the antisense CCR parent but not in the antisense COMT I parent. In double transformants, immunolabeling of non-condensed guaiacyl-syringyl units was weaker and revealed changes in epitope distribution that specifically affected vessels. Our results more widely highlight the impact of culture conditions on phenotypes and gene expression of transformed plants.
Aldehyde Oxidoreductases↗
DNA typing of HLA class II genes in B-lymphoblastoid cell lines homozygous for HLA.
The HLA class II genotypes were determined in the B-lymphoblastoid cell lines selected for the Tenth International Histocompatibility Workshop. The HLA class II genes were determined by the PCR-SSOP method using the reagents provided by the Eleventh Histocompatibility Workshop. Additional studies have been performed for further characterization of HLA class II polymorphism on these cell lines. It is observed that several cell lines have HLA class II haplotypes with the same DRB1, DQA1 and DQB1 alleles on both haplotypes but different alleles at the other class II loci, confirming that these cell lines are not truly HLA class II-homozygous. Other cell lines carried HLA class II haplotypes which were only different at the DRB1 gene. These results suggest double recombination events or gene conversion-like events in generation of HLA DR, DQ haplotypes. These cell lines provide an important tool as references for HLA DNA typing.
Alleles↗
Primary structure of human class II histocompatibility antigens 3rd communication. Amino acid sequence comparison between DR and DC subclass antigens derived from a lymphoblastoid B cell line homozygous at the HLA loci (HLA-A3,3; B7,7; Dw2,2; DR2,2: MT1,1; Dc1,1: MB1,1).
Class II histocompatibility antigens from a homozygous human lymphoblastoid B cell line (HLA-A3,3; B7,7; Dw2,2; DR2,2; MT1,1; DC1,1; MB1,1) were isolated by an exclusively chemical procedure. After the separation of the alpha and beta chains the amino acid sequences of the extracellular parts of the DR2 alpha and the DR2 beta chains could be determined, in spite of the heterogeneity of both fractions. Peptides isolated in considerably lower yields indicated at least one more alpha chain and 6 further beta chains. By the investigation of these lower-yield enzymatic fragments, in addition to the DR2 alpha and DR2 beta chains, we can now report on the partial amino acid sequences of a DC alpha chain, a second beta chain of DR type and one beta chain of DC type. Furthermore, the isolation of a characteristic glycopeptide suggests the existence of a second beta chain of DC type. The following class II antigens are therefore identified: DR2 alpha/DR2 beta 1, DR2 alpha/DR2 beta 2, DC1 alpha/DC1 beta 1, DC1 alpha/DC1 beta 2, indicating that each subclass can be subdivided into two antigens because each alpha chain type can associate with at least either beta 1 or beta 2. Further investigations must clarify whether the remaining three beta chains are of the DR, DC, or of a third beta chain type. Amino acid sequence comparisons confirm that the human DR antigens are the equivalent of mouse I-E antigens, while human DC antigens are the equivalent of mouse I-A antigens.
Amino Acid Sequence↗
The application of the AFLP method to determine the purity of homozygous lines of barley (Horedum vulgare L.).
Amplified fragment length polymorphism of DNA has been used to analyse the equality of plants obtained from isolated microspores. Although the control parental material was regarded as being highly homozygous, the analysis of the banding patterns of single plants showed a certain level of polymorphism. The analysis of regenerants with a doubled chromosome number did not show any diversity within the progeny of a single line. The differences in banding patterns coming from single plants were only observed in microspore donor lines. These results have proven the high purity of homozygous lines obtained via androgenesis from isolated microspores.
Breeding↗
Establishment of mouse cell lines homozygous for temperature-sensitive mutation in catalase gene.
Contact-inhibited and-transformed fibroblast cell lines have been established from the homozygous C3H/CSb mutant mouse. These cell lines have low levels of a temperature-sensitive catalase enzyme activity. When compared to wild-type C3H cells, the catalase-deficient cells are markedly more sensitive to the toxicity of hydrogen peroxide. Furthermore, this cellular sensitivity to external hydrogen peroxide is temperature sensitive. These cell lines will be of use in the study of the role which catalase plays in the intracellular prevention of transformation induced by oxidative stress.
Acatalasia↗
Generation of novel human MHC class II mutant B-cell lines by integrating YAC DNA into a cell line homozygously deleted for the MHC class II region.
The human B lymphoblastoid cell line (LCL) 721.174 sustains a large homozygous deletion in the major histocompatibility complex (MHC) class II region that results in an absence of DQ and DR molecules as well as a deficiency in the assembly and transport of class I molecules to the cell surface. The deleted genes include the transporters associated with antigen processing TAP1 and TAP2, DMA and DMB which are involved in editing class II bound peptides, and four genes whose roles in antigen processing are unclear; the low mass polypeptide genes LMP2 and LMP7, and DNA and DOB. To study this region we have integrated into 721.174 two overlapping yeast artificial chromosome (YAC) clones which cover the interval LMP2-DRA inclusive. Three clones (11.2A1.1, 4D1D10.1 and 4D1D10.2), containing complete copies of the transfected YAC, produced varying levels of mRNA from the LMP, TAP, DQ and DR genes and corresponding levels of LMP and TAP protein. Class I cell surface expression was restored in 11.2A1.1 and 4D1D10.1, as was DR expression in both 4D1D10 transfectants. These studies demonstrate the feasibility of introducing large groups of functional genes back into human lymphoblastoid cells sustaining deletions, with full restoration of biological function. The procedure could be exploited in order to restore all but one gene covered by the deletion, effectively producing a single gene defect. This could be used to introduce copies of genes engineered to contain mutations and to study cis regulatory elements at some distance from the chosen loci.
Amino Acid Sequence↗
Heterogeneity of class II histocompatibility antigens isolated from a human lymphoblastoid B cell line homozygous at the HLA loci (HLA-A3, 3; B7, 7; Dw2, 2; DR2,2; DC1,1; MB1,1; MT1,1).
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Amino Acid Sequence↗
Competition in Drosophila. II. Homozygous lines.
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Analysis of Variance↗
The genetic analysis of quantitative trait differences between two homozygous lines.
Previous maximum likelihood methods to analyze quantitative data on two inbred parental strains, their F1 and backcross generations are extended in three directions: (1) a method is suggested to transform the data to better satisfy the assumptions of normality and homoscedasticity; (2) the likelihoods are modified to allow for litter correlations and heteroscedasticity and (3) allowance is made for the incorporation of F2 data. The problem of making a choice among a set of simple genetic hypotheses is further discussed.
Crosses, Genetic↗
On testing whether one locus can account for the genetic difference in susceptibility between two homozygous lines.
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Animals↗
Overexpression of Cu-Zn superoxide dismutase in Drosophila does not affect life-span.
Aging and disease processes may be due to deleterious and irreversible changes produced by free radical reactions. The enzyme copper-zinc superoxide dismutase (Cu-Zn SOD; superoxide:superoxide oxidoreductase, EC 1.15.1.1) performs a protective function by scavenging superoxide radicals. The Cu-Zn SOD gene (Sod) cloned from Drosophila melanogaster was introduced via P element-mediated transformation into the germ line. Homozygous lines carrying additional copies of the Sod gene were recovered and characterized. Increases in Sod transcripts and enzyme activity were observed in the transformed lines, indicating that all of the sequence information required for gene expression is contained on the inserted gene fragment. The effects of additional SOD on oxygen free radical metabolism and longevity were investigated. Additional SOD did not markedly affect oxygen metabolism or longevity.
Aging↗
Spontaneous short-range silencing of a GFP transgene in Nicotiana benthamiana is possibly mediated by small quantities of siRNA that do not trigger systemic silencing.
A green fluorescent protein (GFP) transgene under the control of the 35S cauliflower mosaic virus (CaMV) promoter was introduced by Agrobacterium-mediated transformation into Nicotiana benthamiana to generate fourteen transgenic lines. Homozygous lines that contained one or two copies of the transgene showed great variation of GFP expression under ultraviolet (UV) light, which allowed classification into three types of transgenic plants. Plants from more than half of the transgenic lines underwent systemic RNA silencing and produced short interfering RNA (siRNA) as young seedlings, while plants of the remaining lines developed, in a spontaneous manner, defined GFP-silenced zones on their leaves, mostly in the form of circular spots that expanded to about 4-7 mm in size. In some of the latter lines, the GFP-silenced spots remained stable, but no systemic silencing occurred. Here we characterize this phenomenon, which we term spontaneous short-range silencing (SSRS). Biochemical analysis of silenced spot tissue did not reveal detectable levels of siRNA. However, agro-infiltration with the suppressor proteins P19 of cymbidium ring spot virus (CymRSV), HC-Pro of tobacco etch virus (TEV), and crosses to a P19 transgenic line, nevertheless suggests that low concentrations of siRNA may have a functional role in the locally silenced zone. We propose that small alterations in the steady-state concentration of siRNAs and their cognate mRNA are decisive with regard to whether silencing remains local or spreads in a systemic manner.
Gene Expression Regulation, Plant↗
Molecular mapping of class II polymorphisms in the human major histocompatibility complex. I. DR beta.
We have studied 27 cell lines homozygous by consanguinity for the major histocompatibility complex to establish the restriction fragment length polymorphism (RFLP) patterns seen with six different restriction enzymes (Bam HI, Bg1 II, Eco RI, Hinc II, Hind III, Pvu II) and DR beta chain probes. The probes used were a full-length cDNA DR beta probe and a probe specific for the 3' untranslated region. The RFLP obtained represent the first standard patterns for the individual haplotypes DR1 through 7 and DR9 as defined by genetically homozygous lines. The patterns obtained reflect the DR specificities closely, as well as the DRw52 and DRw53 specificities. These latter specificities are associated with the most prominent patterns of RFLP. Bands are present which are unique for the haplotypes DR1, DR2, DR4, DR7, DRw52, and DRw53, and could be used for typing these haplotypes in heterozygotes. Subtypes can be identified for all of the haplotypes except DR1. These subtypes indicate that there is an extensive amount of polymorphism in the DR subregion that has not been identified serologically.
Cell Line↗
Generation of two homozygous iPSC lines carrying variants of uncertain significance in LMNA associated with cardiomyopathy.
Variants of uncertain significance (VUS) in the LMNA gene represent a major challenge in clinical genetics, as insufficient functional evidence limits their interpretation and clinical decision-making in laminopathies, including dilated cardiomyopathy (DCM). Here, we generated two isogenic induced pluripotent stem cell (iPSC) lines carrying homozygous LMNA variants, c.293A > G (p.Glu98Gly) and c.439G > A (p.Ala147Thr) by prime editing of a healthy donor iPSC line. Both variants are located within Coil 1B domain of lamin A. The edited iPSC lines retain normal morphology, pluripotency, genomic integrity, and trilineage differentiation capacity, providing a valuable platform for functional characterization and potential clinical reclassification of LMNA VUS.
Humans↗