Genetic and environmental factors in the longitudinal growth of rats: II. Ventrodorsal craniofacial size

By means of roentgenographic cephalometry and quantitative genetic analysis, the relative contribution of the genetic and environmental components to the ontogenic change of the ventrodorsal view of the craniofacial complex was shown to vary with age. The genetic component of variance significantly increased until the 80th day. Inversely, the maternal component of variance showed a large value during the early stage of postnatal growth and gradually decreased thereafter to a very small amount by the 80th day. In general, it appeared that the genetic effect became larger with the age of the rat and the maternal effects tended to diminish. The environmental component of variance did not change much over the course of the experiment. We thus concluded that the genetic effect contributed to the change of the ontogenic variation of the craniofacial complex through all experimental periods and the maternal effect contributed to the change at the early growth stage of the craniofacial complex.     

Genetic and environmental factors in the longitudinal growth of rats: I. Body weight and overall craniofacial size

By means of roentgenographic cephalometry and quantitative genetic analysis, the relative contribution of the genetic and environmental components to total variance of body weight and overall craniofacial size was shown to vary with age. The genetic component of variance significantly increased until 80 days of age. Inversely, the maternal component of variance showed a high value during the early stage of postnatal growth and gradually decreased thereafter to a very small amount by day 80. Thus it appeared that the genetic effect became larger with age of the rat and the maternal effects diminished. The environmental component of variance did not change much over the course of the experiment. We thus conclude that genetic effect contributed the change of ontogenetic variation of craniofacial complex through all experimental periods and that maternal effect contributed to it at early growth stage of the craniofacial complex.     

Leaf shape: genetic controls and environmental factors

In recent years, many genes have been identified that are involved in the developmental processes of leaf morphogenesis. Here, I review the mechanisms of leaf shape control in a model plant, Arabidopsis thaliana, focusing on genes that fulfill special roles in leaf development. The lateral, two-dimensional expansion of leaf blades is highly dependent on the determination of the dorsoventrality of the primordia, a defining characteristic of leaves. Having a determinate fate is also a characteristic feature of leaves and is controlled by many factors. Lateral expansion is not only controlled by general regulators of cell cycling, but also by the multi-level regulation of meristematic activities, e.g., specific control of cell proliferation in the leaf-length direction, in leaf margins and in parenchymatous cells. In collaboration with the polarized control of leaf cell elongation, these redundant and specialized regulating systems for cell cycling in leaf lamina may realize the elegantly smooth, flat structure of leaves. The unified, flat shape of leaves is also dependent on the fine integration of cell proliferation and cell enlargement. Interestingly, while a decrease in the number of cells in leaf primordia can trigger a cell volume increase, an increase in the number of cells does not trigger a cell volume decrease. This phenomenon is termed compensation and suggests the existence of some systems for integration between cell cycling and cell enlargement in leaf primordia via cell-cell communication. The environmental adjustment of leaf expansion to light conditions and gravity is also summarized.     

Genetic and environmental factors in human osteoporosis

Osteoporosis is a common disorder, with prolongation of the average life span it has become a major public health problem. On the formation of osteoporosis genetic factors and environmental influences could play a role then it is considered as multi-factorial. Because a variety of functions to affect susceptibility to the formation of osteoporosis VDR-F, VDR-B, COL1A1, ESR1X, ESR1P and CTR are thought to be candidate genes. In this study, the aim is to investigate the relationship between these genes polymorphism and bone mineral density (BMD) values of lumbar vertebra and femoral neck in 188 Turkish people. Lumbar spine and femoral neck BMD of the individuals included in the study were measured by the dual X-ray absorptiometry method. The genotyped polymorphisms by simultaneous amplification of five regions of the genome, containing six SNPs of interest and detecting the amplified product, using the kit MetaBone Clinical Arrays^?. Statistical analyses indicated that; VDR-B gene polymorphisms major (P?=?0.013), VDR-F polymorphisms have minor (P?=?0.082) effect on femur BMD. None of the other genes has any significant effect on spinal BMD. Patient age, body mass index and diet has significant effect on femoral and spinal BMD. Osteoporosis is a multi-factorial disease and many genetic and non-genetic risk factors contribute to the development of osteoporosis. Early detection of a genetic predisposition to osteoporosis should allow delay and/or limit unfavorable changes in the bone tissue.     

Genetic and environmental factors in cutaneous malignant melanoma

Cutaneous malignant melanoma (CMM) is an interesting example of multifactorial disease, where both genetic and environmental factors are involved and interact. Major risk factors include a personal and familial history of melanoma, cutaneous and pigmentary characteristics, sun exposure and reactions to sun exposure. Phenotypic risk factors are likely to be genetically determined. Two high-risk melanoma susceptibility genes-CDKN2A and CDK4-have been identified to date, with a third gene p14(ARF) also being suspected of playing a role. Other high-risk genes are anticipated by the existence of 9p21-unlinked families. A low-risk melanoma-susceptibility gene-MC1R-has also been identified. Current studies aim to identify other susceptibility genes as well as to determine the respective contributions and interactions of the various genetic and environmental factors of CMM and associated phenotypes.     

Genetic and environmental factors in cancer and neurodegenerative diseases

The aim of this review is to summarise the recent findings in the fields of carcinogenesis and neurodegenerative diseases, the both disorders are characterised by the contribution of different factors including the inheritance of mutated genes, and the exposure to endogenous or exogenous agents during the life. We first analysed the causative genes until now discovered in both processes, then we focused our attention on the role of environmental exposure, susceptibility factors, oxidative stress, apoptosis and aging to the development of such disorders. The genotype at a particular locus may account for an inter-individual susceptibility that can both increase or decrease the risk to develop the pathology especially after the exposure to environmental agents. The mechanism of apoptosis, that is an excellent strategy in order to eliminate damaged cells, seems to be lost during carcinogenesis, while it seems to be involved in the neuronal death in a lot of neurodegenerative disorders. Oxidative stress can both lead to DNA mutations or to the formation of damaged proteins, so being an important risk factor for the initiation and the progression of a disease: in fact it may be one of the causes or can arise as a consequence of a damage caused by other factors increasing then the first damage. It is well established that carcinogenesis is a multi-step process caused by series of successive mutations occurring into a cell and conferring to this cell a growth advantage, so that age is the largest risk factor for cancer in humans. Pathophysiology of neurodegenerative diseases is complex and likely involves multiple overlapping and perhaps redundant pathways of neuronal damage, characterised by the generation of anomalous proteins, often due to mutations in the corresponding gene, and by their subsequent accumulation into or outside specific areas of the brain.     

Genetic and environmental factors affecting chiasma formation in locusts

By means of crosses with the African Migratory locust it has been demonstrated that various strains carry different segregations of genes which quantitatively condition the formation of chiasmata during meiosis. These genes occur in polygenic series, and in one low frequency strain the polygenes show an epistatic effect for low chiasma frequency, while another low frequency strain seems to have attained this property through gamma radiation. In reciprocal crosses between the lastnamed low and a medium frequency strain there appears to be a maternal effect, with heterosis and epistasis respectively in the reciprocal crosses. In one strain two lines were selected for plasticity and non-plasticity of hopper colour change in small populations, and this selection has resulted in multiple changes in that the two lines now diverge in the three main physical criteria of phase transformation, viz. hopper colour, adult morphometric ratios and chiasma frequencies; one line is now solitarious for these characteristics, the other more gregarious. The genotypes selected out could be related to the ability to utilize the gregarization pheromone.A 10° rise in temperature above 22° C has the effect of increasing chiasma frequencies significantly, but increase in the carbon dioxide content of the atmosphere has no effect. Male and female hoppers produce equivalent amounts of the chiasma-inducing pheromone, while solitarised hoppers do not lose the ability to produce this pheromone. The crucial stage for the action of this pheromone on chromosomes is during the fifth nymphal instar. The phase status of parents appears to affect chiasma frequencies in the offspring, more specifically that of the mother, so that there is further evidence of maternal effect on chiasma frequency.     

Genetic and environmental factors causing variation in drug response

Large pharmacokinetic variations, ranging in magnitude from 4- to 40-fold, often exist among the members of a given population. These variations create differences in risk of cancer by accelerating metabolic activation of certain environmental carcinogens in some subjects, while retarding such rates in other subjects. To identify specific genetic and environmental causes of large interindividual variations in these rates, several methods have been developed to probe hepatic cytochrome P-450 isozymes responsible for xenobiotic activation. In patients, dynamic interactions occur between genetic and environmental factors causing large interindividual variations in xenobiotic metabolism. Even the same patient can change dosage requirements with time and condition. Appropriate marker drugs can sensitively indicate pharmacokinetic capacity at any given time in a patient or normal volunteer. With respect to genetic factors, twin and family studies are the traditional methods used to test pharmacogenetic hypotheses. Representative examples are cited to illustrate how twin and family studies serve this purpose. Monogenic control of large interindividual variations in the activity of approx. 12 P-450 isozymes has been described. Individual metabolic pathways need to be investigated for drugs biotransformed by multiple pathways. Since many hepatic P-450 isozymes are extremely sensitive to perturbation by numerous environmental alterations, the critical role of selection criteria is stressed to assure that all subjects of twin and family studies are under as uniform environmental conditions as possible. Otherwise, the operation of genetic factors may be concealed or misinterpreted in studies that do not use gene cloning or protein sequence.     

Genetic and environmental factors in health-related behaviors: studies on Finnish twins and twin families.

Family, twin and adoption studies have provided evidence for familial and genetic influences on individual differences in disease risk and in human behavior. Attempts to identify individual genes accounting for these differences have not been outstandingly successful to date, and at best, known genes account for only a fraction of the familiality of most traits or diseases. More detailed knowledge of the dynamics of gene action and of specific environmental conditions are needed. Twin and twin-family studies with multiple measurements of risk factors and morbidity over time can permit a much more detailed assessment of the developmental dynamics of disease risk and the unfolding of behavioral risk factors.     

Craniofacial variation and growth in the Prader-Labhart-Willi syndrome

A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research. Anthropometric measurements, including head length and breadth, minimum frontal diameter, and head circumference, were obtained on 38 PLWS individuals (21 with chromosome 15 deletions) with an age range from 2 weeks to 39 years. No anthropometric differences were found between the two chromosome subgroups. A relative deceleration in the growth of certain craniofacial dimensions (head circumference and length) is suggested by the negative correlations between age and Z-scores for the measurements. Raw values for minimum frontal diameter and head breadth were near or below the 5th percentile curve, while almost all values for head length and circumference fell within normal limits. The data support suggestions that dolichocephaly be considered an early diagnostic feature of PLWS. Furthermore, the status of narrow bifrontal diameter as a major feature of PLWS is confirmed.     

Impact of environmental factors on the body shape variation and sexual shape dimorphism in Carabus granulatus L.(Coleoptera: Carabidae)

Despite plenty of data in insects shape variation,papers on environmental factors effect on such variation are scarce and in ground beetles are practically absent.The aim of this research was to:(i) model the effect of the region of habitation,urbanization and habitat vegetation into the shape variation in widespread carabid species;(ii) describe sexual shape dimorphism in studied species.Samples were pitfall trapped in different regions of its area in the spectrum of anthropogenic influence (cities,suburbs,natural biotopes).One thousand and one hundred sixty-eight specimens were analyzed for six morphometric traits and terminal points of those measurements were used as landmarks for Procrustes analysis.We used linear models to reveal which factor (region,urbanization or vegetation) and in what direction affected beetles shape.Results showed that males in C.granulatus had more convex elytra and head,and the more convex in apical-basal direction pronotum.In its area from the east to the west elytra flattened in medial-distal direction and pronotum flattened in apical-distal direction.In disturbed urban environment beetles pronotum became more convex in both sexes and males elytra became more convex too.In open habitats (meadows,lawns) beetles became more flattened.     

Craniofacial sutures: morphology, growth, and in vivo masticatory strains.

The growth and morphology of craniofacial sutures are thought to reflect their functional environment. However, little is known about in vivo sutural mechanics. The present study investigates the strains experienced by the internasal, nasofrontal, and anterior interfrontal sutures during masticatory activity in 4-6-month-old miniature swine (Sus scrofa). Measurements of the bony/fibrous arrangements and growth rates of these sutures were then examined in the context of their mechanical environment. Large tensile strains were measured in the interfrontal suture (1,036 microepsilon +/- 400 SD), whereas the posterior internasal suture was under moderate compression (-440 microepsilon +/- 238) and the nasofrontal suture experienced large compression (-1,583 microepsilon +/- 506). Sutural interdigitation was associated with compressive strain. The collagen fibers of the internasal and interfrontal sutures were clearly arranged to resist compression and tension, respectively, whereas those of the nasofrontal suture could not be readily characterized as either compression or tension resisting. The average linear rate of growth over a 1-week period at the nasofrontal suture (133.8 micrometer, +/- 50.9 S.D) was significantly greater than that of both the internasal and interfrontal sutures (39.2 micrometer +/- 11.4 and 65. 5 micrometer +/- 14.0, respectively). Histological observations suggest that the nasofrontal suture contains chondroid tissue, which may explain the unexpected combination of high compressive loading and rapid growth in this suture.     

Genetic and environmental factors affecting reproductive variation in Allium vineale

Traits related to allocation of resources to sexual and asexual reproduction, together with seed production, were scored on Allium vineale plants sampled from five sites in southern Sweden during a period of 4 years. In addition, random amplified polymorphic DNA (RAPD) fingerprinting of the sampled plants allowed the identification of genets. Integration of genetic and phenotypic data from field and greenhouse provided for the analysis of among‐year, among‐site, and among‐genet variance components. These variance components were taken to represent the influences of short‐term environmental changes, persistent site divergence, and within‐site genet differences, respectively. It was shown that differences among sites and among genets explained a large part of the phenotypic variation of allocation traits, whereas among‐year differences had a larger influence on the variation in seed production. Together, the results support the conclusions of a recent model on the evolution of mixed reproductive systems, that predicts a stable balance between sexual and asexual reproduction because of annual fluctuations in fecundity through the two modes.