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PubMed2006

Replication and inheritance of Nocardia plasmid pC1.

Nocardia sp. C-14-1, isolated from acrylic fiber wastewater, can degrade long-chain alkanes and succinonitrile efficiently. Here we report the characterization of an indigenous plasmid pC1. The overall nucleotide sequence of pC1 consisted of 5841 bp. The five ORFs, encoding a DNA recombinase, replication protein (Rep(pC1)) and three proteins of unknown function, were predicted on pC1. The Rep(pC1) displayed its homology with the Rep of Rhodococcus large plasmid p33701, suggesting a theta type of replication. An Escherichia coli plasmid (containing the single rep(pC1) gene) propagated autonomously in low copy number in Nocardia or Rhodococcus, suggesting that rep(pC1) was an essential gene for plasmid replication. The plasmid (containing the single rep(pC1) gene) presented as inheritance unstable hints that other pC1 loci were required for the stable inheritance of plasmids. By comparison of the plasmid-borne Rep proteins, we classify Rhodococcus or Nocardia plasmids into four groups.

DNA Replication↗
PubMed2026

Spatial inheritance patterns across maize ears are associated with alleles that reduce pollen fitness.

Often, more pollen grains land on recipient flowers than there are ovules to fertilize. Consequently, the haploid male gametophyte engages in post-pollination competition, one way that pollen genotype can influence inheritance. The maize (Zea mays subsp. mays L.) inflorescence (ear), with its elongated stigma and style structures (silks), has a conspicuous spatial heterogeneity, with longer silks at the base of the ear than at the apex. To evaluate the hypothesis that alleles with reduced pollen fitness influence the spatial distribution of progeny genotypes along the ear, we developed an updated phenotyping platform that maps fluorescently marked mutant (Ds-GFP) kernel phenotypes on the ear via an implementation of the Faster R-CNN machine vision model (EarVision.v2) and a statistical pipeline that evaluates the relationship between kernel position and transmission ratio (EarScape). Our dataset (1384 ears) represents 58 Ds-GFP insertion alleles. None of the 48 alleles with Mendelian inheritance showed any significant spatial trend. In contrast, 50% of alleles with a pollen-specific transmission defect (5/10) exhibited significant spatial effects. An insertional mutant of the gene encoding a putative actin-binding protein, base-to-apex gradient1* (bag1*), is associated with decreased mutant transmission at the ear base relative to the apex. Surprisingly, a mutant allele of another pollen-expressed gene (Zm00001eb236740) generates the opposite trend, decreased mutant transmission toward the ear apex; and two mutant alleles of the sperm cell attachment factor gamete expressed2 (gex2) can produce ears with transmission highest at both base and apex. We conclude that pollen fitness mutants cause unexpectedly diverse spatial patterns of progeny genotypes.

Zea mays↗
PubMed2004

Recessively inherited coagulation disorders.

Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B. We investigated more than 1000 patients with recessively inherited coagulation disorders from Italy and Iran, a country with a high rate of recessive diseases due to the custom of consanguineous marriages. Based upon this experience, this article reviews the genetic basis, prevalent clinical manifestations, and management of these disorders. The steps and actions necessary to improve the condition of these often neglected patients are outlined.

Blood Coagulation Disorders, Inherited↗
PubMed2003

Consistency of genetic inheritance mode and heritability patterns of triglyceride vs. high density lipoprotein cholesterol ratio in two Taiwanese family samples.

BACKGROUND: Triglyceride/HDL cholesterol ratio (TG/HDL-C) is considered as a risk factor for cardiovascular events. Genetic components were important in controlling the variation in western countries. But the mode of inheritance and family aggregation patterns were still unknown among Asian-Pacific countries. This study, based on families recruited from community and hospital, is aimed to investigate the mode of inheritance, heritability and shared environmental factors in controlling TG/HDL-C. RESULTS: Two populations, one from community-based families (n = 988, 894 parent-offspring and 453 sibling pairs) and the other from hospital-based families (n = 1313, 76 parent-offspring and 52 sibling pairs) were sampled. The population in hospital-based families had higher mean age values than community-based families (54.7 vs. 34.0). Logarithmic transformed TG/ HDL-C values, after adjusted by age, gender and body mass index, were for genetic analyses. Significant parent-offspring and sibling correlations were also found in both samples. The parent-offspring correlation coefficient was higher in the hospital-based families than in the community-based families. Genetic heritability was higher in community-based families (0.338 +/- 0.114, p = 0.002), but the common shared environmental factor was higher in hospital-based families (0.203 +/- 0.042, p < 0.001). Commingling analyses showed that more than one-component distribution models were the best-fit models to explain the variance in both populations. Complex segregation analysis by regressive models revealed that in both samples the best-fit model of TG/HDL-C was the model of environmental effects plus familial correlation, in which significant parent-offspring and sibling correlations were demonstrated. Models of major gene effects were rejected in both samples. CONCLUSION: Variations of TG/HDL-C in the normal ranges were likely to be influenced by multiple factors, including environmental and genetic components. Higher genetic factors were proved in younger community-based families than in older hospital-based families.

Adult↗
PubMed2002

Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns.

To investigate the genetic basis of constitutional delay of growth and maturation (CD), 41 families of CD probands underwent interviews regarding pubertal timing, and 12 additional families had history data analyzed from medical records. The family histories of the 53 probands (40 boys and 13 girls) were assessed for pubertal delay using both strict criteria (pubertal delay >or=2 SD beyond the mean) and relaxed criteria (pubertal delay >or=1 SD beyond the mean). These pedigrees were compared with 25 control pedigrees. Mean age of menarche was 14.3 +/- 1.4 yr for mothers of CD probands vs. 12.7 +/- 1.4 yr for mothers of controls (P < 0.0001). Thirty-eight percent of CD mothers met the strict 2 SD criteria, and an additional 29% met the relaxed 1 SD criteria for pubertal delay. By contrast, among the control mothers, 12% met the strict and an additional 8% met the relaxed criteria (P < 0.0001 for comparison with CD mothers). CD fathers were also more likely than the control fathers to have a history of pubertal delay. For first-degree relatives, the estimated relative risk of meeting the 2 SD and 1 SD criteria for delay in CD vs. control pedigrees were 4.8 and 4.9, respectively; estimated relative risk for second-degree relatives were 3.2 and 4.4, respectively. Inheritance patterns varied, but many families showed an apparent autosomal dominant pattern, with or without incomplete penetrance. Although many genes may underlie CD, the inheritance patterns suggest that there are also single genes with major effects whose penetrance is likely affected by genetic or environmental modifiers. The future identification of these major and modifying genes is an exciting prospect that would improve our understanding of the factors that regulate human pubertal timing and modulate the human reproductive endocrine axis.

Adolescent↗
PubMed2005

Patterns of inheritance in familial ALS.

We investigated 185 families with ALS for evidence of anticipation and mitochondrial inheritance. Although initial analysis demonstrated significant anticipation of age at death between generations in patients with familial ALS, further analysis demonstrated features of regression to the mean, suggesting that the perceived differences are the result of bias. In addition, there was no evidence of an effect of preferential maternal inheritance, which would have supported transmission of mitochondrial DNA mutations.

Age Distribution↗
PubMed2006

[The mixed major gene plus polygenes inheritance for female fertility in wheat (Triticum aestivum L.)].

Three sets of data for the P1, P2, F1, and F2 populations derived from three crosses between the normal fertility wheat (Triticum aestivum L.) cultivars with different ecotypes and the female sterile line (XND126) were used to investigate the inheritance of female fertility in wheat using mixed major gene plus polygenes inheritance model in 2005 and 2006. The results from the joint segregation analysis of the four generations showed that female fertility in wheat is controlled by two major genes plus polygenes, and the interaction between the two major genes is also detected.

Fertility↗
PubMed2001

Mitochondrial inheritance in Schistosoma mansoni: mitochondrial variable number tandem repeat mutation produces noise on top of the signal.

The Schistosoma mansoni mitochondrial genome contains tandemly arrayed copies of a 62-base repeat motif. The tandem array is highly polymorphic with respect to number of repeats and commonly exhibits heteroplasmy. This study shows that a very high rate of mutation rapidly produces new repeat lengths (new haplotypes) for this mitochondrial variable number tandem repeat. A maternal inheritance pattern is also demonstrated for this repeat sequence, while the high mutation rate causes some offspring to exhibit nonmaternal haplotypes. Frequent generation of new haplotypes can be observed within samples of clonal cohorts taken from monomiracidial snail infections. These same clonal cercarial groups, when crossed, produce F1 generations that exhibit the maternal set of haplotypes, across all individuals, with the frequent addition of new mutant haplotypes. In each of 2 crosses, a subset of the recently arisen haplotypes match paternal haplotypes by chance (30.4% and 18.8%), thus giving the false appearance of partial paternal inheritance of mitochondria.

Animals↗
PubMed2002

[Menorrhagia and inherited disorders of coagulation].

Menorrhagia, a common complaint among women, may be a manifestation of an underlying inherited disorder of coagulation. In this review, the most frequent hereditary bleeding disorders associated with menorrhagia are briefly analyzed. Particularly, the epidemiological, clinical and diagnostic characteristics of von Willebrand disease, factor VIII, factor IX and factor XI deficiencies are examined. The influence of external factors (age, phase of menstrual cycle and hormonal therapy) on coagulation factor levels is also analyzed. Finally, the main therapeutic options (such as hormonal therapy, tranexamic acid and desmopressin), for the treatment of menorrhagia in women with hereditary bleeding disorders are reviewed. Since inherited bleeding disorders are frequently associated with menorrhagia, the conclusion is drawn that an underlying congenital bleeding disorder should be ruled out in any woman with menorrhagia.

Blood Coagulation Disorders, Inherited↗
PubMed2004

Transgene inheritance in plants.

The patterns of transgene inheritance in plants and the possible explanations for non-Mendelian transmission are reviewed. The non-Mendelian inheritance of a transgene has been recorded with a frequency between 10% and 50% in transgenic plants produced either by Agrobacterium-mediated transformation or through particle bombardment. Different effects such as deletion, duplication, rearrangement, repeated sequence recombination as well as gene interaction have been observed for transgenic loci. The nature of the recipient genome, nature of the transgene and the interactions between them seem to contribute to the non-Mendelian segregation of transgenes.

Gene Deletion↗
PubMed2004

Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?

BACKGROUND AND OBJECTIVES: Inherited factor VII (FVII) deficiency is a rare bleeding disorder characterized by a poor relationship between reported FVII clotting activity (FVII:C) and bleeding tendency. Our study was aimed at defining biological parameters that are possibly predictive for bleeding risk in this condition. DESIGN AND METHODS: Forty-two FVII-deficient patients (FVII:C <30%) were classified into two opposite clinical groups defined as severe and non-or-mild bleeders. For each patient, plasma samples were collected and then investigated for FVII:C (using a sensitive method and human recombinant thromboplastin as the reagent), FVII antigen, activated FVII coagulant activity (FVIIa:C) and the free-form of tissue factor pathway inhibitor. RESULTS: None of these tests could be used as highly accurate predictors of bleeding. Nevertheless, both FVII:C and FVIIa:C differed significantly between the two clinical groups. Using ROC-curve analysis, two critical values of 8% and 3mIU/mL for FVII:C and FVIIa:C, respectively, could be proposed to discriminate between severe bleeders and non-or-mild bleeders. INTERPRETATION AND CONCLUSIONS: A highly accurate diagnostic test for predicting bleeding tendency in inherited FVII deficiency still eludes definition, highlighting the fact that factors other than FVII itself interfere with the expression of bleeding phenotypes in this condition. Nevertheless, potential critical values using sensitive FVII:C and FVIIa:C methods may be useful in clinical laboratories for FVII-deficient patients. Those patients with FVII:C levels higher than 8% FVII:C or FVIIa:C higher than 3 mIU/mL, with no other hemostatic defect, seem to have a minimal risk of severe bleeding. Extended clinical studies are needed to support these findings.

Adolescent↗
PubMed2004

[Hemophilia and other inherited blood coagulation disorders in Poland].

The aim of the study was to analyze the data on 3224 patients with inherited blood coagulation disorders registered in Poland till December 1st, 2003. In 2269 registered hemophilia patients, 1953 were hemophilia A, and 316 were hemophilia B. Hemophilia A occurs in 1512 families, and hemophilia B in 240 families. Severe hemophilia constitutes the majority of hemophilia A and B cases (59.7% and 56.6% respectively). About 50% of the hemophiliacs have no history of bleeding diathesis in the family. The mean age of hemophilia A patients is 30.9 years, and that of hemophilia B patients--29.2 years. Prevalence of hemophilia in Poland is approximately 1:12 300 inhabitants. Hemophilia A has been diagnosed in 60.6% of all patients with inherited blood coagulation disorders registered in Poland, von Willebrand disease-- in 21.9%, hemophilia B-- in 9.8% and factor VII deficiency-- in 3.3%.

Adolescent↗
PubMed2005

Inheritance of parthenocarpy in summer squash (Cucurbita pepo L.).

The inheritance of the tendency to set parthenocarpic fruit in the summer squash (Cucurbita pepo L.) line Whitaker was studied. Two parental lines, Whitaker (parthenocarpic) and Caserta (non-parthenocarpic), and the F1 and F2 generations and backcrosses to both parents were tested. The parthenocarpic tendency of individual plants was scored on a scale from 1 (non-parthenocarpic fruit) to 5 (parthenocarpic fruit). The Whitaker line produced parthenocarpic fruit and had a mean score of 4.2, whereas Caserta did not set parthenocarpic fruit and had a score of 1.55. The heritability estimates indicated that genetic gains from selection were feasible. The additive-dominant model showed a good fit, with epistasis being negligible or nonexistent. The hypothesis of monogenic inheritance with incomplete dominance was not rejected within the degree of dominance range from 0.2 to 0.5. These results indicate that parthenocarpy is controlled by a single locus, with incomplete dominance in the direction of parthenocarpic expression.

Crosses, Genetic↗
PubMed2005

Inheritance of seed dormancy in Tibetan semi-wild wheat accession Q1028.

Tibetan semi-wild wheat (Triticum aestivum ssp. tibetanum Shao) is one of the Chinese endemic hexaploid wheat genetic resources, distributed only in the Qinghai-Xizang Plateau of China. It has special characters, such as a hulled glume and spike disarticulation. However, seed dormancy, another important character for wheat resistance to pre-harvest sprouting, was rarely reported. Seed dormancy of more than 10 Tibetan semi-wild wheat accessions was evaluated, and their germinations were 0% or near 0% with both treatments of threshed seeds and intact spikes at hard dough stage. Tibetan semi-wild wheat accession Q1028 was investigated for its seed dormant characters by testing the seed germination percentages of intact spikes, seeds with bract powder, normal seeds, seeds with pierced coat, and sectioned embryos. It was observed that embryo dormancy of Q1028 accounted for its seed dormancy. Using threshed seeds and intact spikes at hard dough stage, the inheritance of seed dormancy was carried out using the F1, F2, F3 and F2BC1 populations of the cross between Q1028 and a wheat line 88-1643, susceptible to preharvest sprouting. The germinations of seeds and intact spikes in F1 plants were 1.0% and 0.9%, respectively. It indicated that seed dormancy of Q1028 was inherited as a dominant trait. From the genetic analysis of the F2, F3 and F2BC1 populations it was found that the strong seed dormancy of Q1028 was controlled by two dominant genes.

Adaptation, Physiological↗
PubMed2005

[A preliminary study on the inheritance of microsatellite in two selective breeding families of shrimp (Litopenaeus vannamei)].

Two full-sib families of Litopenaeus vannamei were used to study the inheritance of allelic variation at 10 microsatellite loci. Of the 20 genotypic ratios observed (10 loci x 2 crosses), 17 ratios conformed to Mendelian segregation. When null alleles were considered, one loci (TUMXLv8.220) confirmed Mendelian expectations in all families. While one loci (TUMXLv3.1) showed deviation from family 06. Three loci (TUMXLv5.66,TUMXLv7.74,TUMXLv8.224)were monomorphic in both controlled crosses; 3 loci were polymorphic and confirmed to Mendelian ratios in all families, can be used for parental analysis and population genetic studies. These results indicated the need to test the inheritance pattern for microsatellite markers in shrimp before using them for population genetic or kinship analysis.

Alleles↗
PubMed2006

Inheritance of canine hip dysplasia: review of estimation methods and of heritability estimates and prospects on further developments.

Canine hip dysplasia is a long-known, widespread degenerative skeletal disease. A hereditary component of hip dysplasia was assumed early, although attempts to explain hip dysplasia with known Mendelian modes of inheritance did not sufficiently fit the data observed. Nevertheless, both recessive and dominant modes of inheritance were proposed. Later on, it was proposed that CHD was determined in a multifactorial way. Both the influence of many genes and environmental effects were assumed to affect the development of CHD. More recently, this thesis was supplemented and refined, as a major gene was detected as a cause of CHD in addition to a polygenic component. Nowadays, projects are under way with the aim to locate quantitative trait loci (QTL) significantly linked to CHD, and ultimately to develop gene tests to identify carriers of genes responsible for CHD.

Animals↗
PubMed2006

Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy?

The interplay of multiple genetic factors, as opposed to monogenic inheritance, is suspected to play a role in many idiopathic generalized epilepsies. This leads to a digenic or oligogenic inheritance model, which although rather simplified, may explain at least some of the clinical observations. Here we describe a family in which the clinical phenotype in the offspring can be explained by a combination of photosensitivity and epilepsy traits that segregated independently of each other. This case history demonstrates the need to evaluate family histories in more detail in order to uncover potential clinical markers for genetic factors in complex epilepsies.

Adult↗
PubMed2006

[Analysis on the major gene and polygene mixed inheritance of lycopene content in fresh consumptive tomato fruit].

Two cultivars significantly different in lycopene content were used for the study of inheritance pattern of lycopene content in fresh consumptive tomato fruit. Combination analysis of six generations proved that a major gene plus additive-dominance-epistasis polygenes dominate the inheritance of lycopene in fresh consumption tomato. The major gene heritability in B1, B2 and F2 was 6.85%, 34.78% and 58.33%, respectively, and the polygene heritability was 58.48%, 30.69% and 0, correspondingly.

Carotenoids↗