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PubMed2001

On the difficulty of defining disease: a Darwinian perspective.

Most attempts to craft a definition of disease seem to have tackled two tasks simultaneously: 1) trying to create a series of inclusion and exclusion criteria that correspond to medical usage of the word disease and 2) using this definition to understand the essence of what disease is. The first task has been somewhat accomplished, but cannot reach closure because the concept of "disease" is based on a prototype, not a logical category. The second task cannot be accomplished by deduction, but only by understanding how the body works and what each component is for, in evolutionary detail. An evolutionary view of the origins of the body and its vulnerabilities that result in disease provides an objective foundation for recognizing pathology. Our social definition of disease will remain contentious, however, because values vary, and because the label "disease" changes judgments about the moral status of people with various conditions, and their rights to medical and social resources.

Biological Evolution↗
PubMed2005

Estimates of genetic correlations between days to calving and reproductive and weight traits in Nelore cattle.

Data comprising 53,181 calving records were analyzed to estimate the genetic correlation between days to calving (DC), and days to first calving (DFC), and the following traits: scrotal circumference (SC), age at first calving (AFC), and weight adjusted for 550 d of age (W550) in a Nelore herd. (Co)variance components were estimated using the REML method fitting bivariate animal models. The fixed effects considered for DC were contemporary group, month of last calving, and age at breeding season (linear and quadratic effects). Contemporary groups were composed by herd, year, season, and management group at birth; herd and management group at weaning; herd, season, and management group at mating; and sex of calf and mating type (multiple sires, single sire, or AI). In DFC analysis, the same fixed effects were considered excluding the month of last calving. For DC, a repeatability animal model was applied. Noncalvers were not considered in analyses because an attempt to include them, attributing a penalty, did not improve the identification of genetic differences between animals. Heritability estimates ranged from 0.04 to 0.06 for DC, from 0.06 to 0.13 for DFC, from 0.42 to 0.44 for SC, from 0.06 to 0.08 for AFC, and was 0.30 for W550. The genetic correlation estimated between DC and SC was low and negative (-0.10), between DC and AFC was high and positive (0.76), and between DC and W550 was almost null (0.07). Similar results were found for genetic correlation estimates between DFC and SC (-0.14), AFC (0.94), and W550 (-0.02). The genetic correlation estimates indicate that the use of DC in the selection of beef cattle may promote favorable correlated responses to age at first mating and, consequently, higher gains in sexual precocity can be expected.

Age Factors↗
PubMedDate not supplied

Phenotypic and genetic correlations among floral traits in two species of Thalictrum.

The evolution of dioecy in plants is expected to be followed by sex-specific selection, leading to sexual dimorphism. The extent of the response to selection depends on the genetic covariance structure between traits both within and between the sexes. Here I describe an investigation to determine phenotypic and genetic correlations between reproductive traits within cryptically dioecious Thalictrum pubescens and within morphologically dioecious T. dioicum. Females of T. pubescens produce flowers having stamens and pistils, appearing hermaphroditic. Genetic correlations were estimated as family-mean correlations among paternal half-sib families. Positive phenotypic and genetic correlations between parts of the same reproductive organs, as the anther and filament of the stamen, indicate developmental associations between these traits in both species. Negative genetic correlations were detected between pistil number and size of reproductive organs in T. dioicum and showed the same direction, but not significance, in T. pubescens. There was a negative phenotypic correlation between the number of stamens and the number of pistils within female flowers of T. pubescens. Within T. pubescens, there was a positive genetic correlation between the number of stamens in males and the number of pistils in females, indicating that floral evolution in males and females may not be independent in this species.

Magnoliopsida↗
PubMed2000

Genetic structure and AFLP variation of remnant populations in the rare plant Pedicularis palustris (Scrophulariaceae) and its relation to population size and reproductive components.

We investigated plant reproduction in relation to genetic structure, population size, and habitat quality in 13 populations of the rare biennial plant Pedicularis palustris with 3-28500 flowering individuals. We used AFLP (amplified fragment length polymorphism) profiles to analyze genetic similarities among 129 individuals (3-15 per population). In a cluster analysis of genetic similarities most individuals (67%) were arranged in population-specific clusters. Analysis of molecular variance indicated significant genetic differentiation among populations and among and within subpopulations (P < 0.001). Gene flow (N(e) m) was low (0.298). On average, plants produced 55 capsules, 17 seeds per fruit, and 42 seedlings in the following growing season. The number of seeds per capsule was independent of population size and of genetic variability. In contrast, the number of capsules per plant (P < 0.05) and the number of seedlings per plant (P < 0.05) were positively correlated with population size. The relation between population size and the number of seeds per plant was not significant (P = 0.075). The number of capsules and of seeds and seedlings per plant (P < 0.01) were positively correlated with genetic variability. Genetic variability was independent of actual population size, suggesting that historical population processes have to be taken into account, too. Stepwise multiple regressions revealed additional significant relationships of habitat parameters (soil pH, C:N ratio), vegetation composition, and standing crop on reproductive components. We conclude that populations of P. palustris are genetically isolated and that reproductive success most likely is influenced by population size, genetic variability, and habitat quality. Management strategies such as moderate grazing, mowing, and artificial gene flow should endeavor to increase population size as well as genetic variation.

Journal Article↗
PubMed2003

Harm as the price of liberty? Pre-implantation diagnosis and reproductive freedom.

Reproductive autonomy is often used as an argument to offer assisted reproduction services to women and to continue research into improving this service. What is often overlooked, however, is the gendered and normative background of parenthood, especially of motherhood. In this paper, I attempt to make women visible and to listen to their voices. Turning to the women's stories, the ethical perspective might be reversed: the so-called 'side-effects' of the overall successful assisted reproduction with or without genetic diagnosis, are to be considered the 'main effects' of assisted reproduction--true for the majority of couples and women. Autonomy, then, must be reformulated as concept of moral agency in the context of divergent social contexts and cultures of parenthood, of socially shaped images of disability, and in the context of scientific visions of technology which do not necessarily match with the medical practice.

Female↗
PubMed2005

Speciation in progress? A continuum of reproductive isolation in Drosophila bipectinata.

Incipient species in the early stages of divergence can provide crucial information about the genetic basis of reproductive isolation and the evolutionary forces that promote speciation. In this report, we describe two subspecies of Drosophila bipectinata that show a continuum of reproductive isolation. Crosses between strains of the same subspecies produce fully fertile offspring. At the same time, each subspecies harbors extensive variation for the degree of reproductive isolation from the other subspecies. The percentage of fertile hybrid males varies from 0 to 90%, depending on the origin of parental strains, indicating that the genes responsible for hybrid sterility are not fixed within either subspecies, or even within local populations. Reproductive isolation is non-transitive, so that the extent of hybrid sterility depends on the particular combination of strains. The two subspecies show little or no evidence of genetic differentiation at three nuclear loci, suggesting that they diverged very recently or continue to experience significant levels of gene flow. A hybrid zone between the two subspecies may exist in New Guinea and Northeastern Australia.

Animals↗
PubMed2026

Identification of candidate genes for reproductive traits&#xa0;in Chinese Holstein cattle using single-step genome-wide association study.

In dairy farming, reproductive efficiency is vital to both profitability and sustainability. However, years of selective breeding for increased milk yield have adversely affected reproductive potential. This study aimed to pinpoint genomic regions and identify potential candidate genes associated with reproductive traits in Chinese Holstein cattle. In this study, a single-step genome-wide association study (ssGWAS) was conducted using 33,202 phenotypic records from 16,379 animals, 55,244 pedigree records, and genomic data from 1,698 cows. These data were integrated into the ssGWAS analysis, resulting in a total pedigree structure of 21,635 animals. A total of 12 significant markers were identified for calving interval (IC), days open (DO), number of services per conception (NS), and conception rate (CR). Among these significant SNPs, three SNPs were for IC, two SNPs were for DO, three SNPs were for NS, and four SNPs were for CR. Several promising candidate genes located near these SNPs have been identified, including SFXN4, B3GAT2, GRK5, PRDX3, and MTHFD1L, highlighting their potential involvement in fertility-related biological processes. Furthermore, functional enrichment analysis identified significant enrichment of pathways associated with cell adhesion and embryonic development, suggesting a potential mechanistic role for DSG family members (DSG1, DSG2, DSG3, and DSG4) in fertility regulation. Collectively, our findings enhance understanding of the complex genetic basis of reproductive traits in dairy cattle and may offer a valuable set of genomic targets for precision breeding of Chinese Holsteins. Integrating these markers into genomic selection programs may contribute to genetic improvements in reproductive efficiency and support the long-term sustainability of dairy production.

Animals↗
PubMed2004

A study of association between genetic markers in candidate genes and reproductive traits in one generation of a commercial broiler breeder hen population.

Markers of alleles for three physiological candidate genes for reproductive traits, growth hormone (GHR), gonadotropin-releasing hormone receptor (GNRHR) and neuropeptide Y (NPY) were assessed for the association with the total egg production, number of double-yolked eggs and age at first egg in a single generation of a broiler breeder (Gallus gallus) pedigree dam line. Single-nucleotide polymorphisms and deletions were detected in the GHR, GNRHR and NPY genes. Genotypes were identified using a PCR-RFLP assay. The frequency of restriction enzyme+/-alleles in the population was for GHR 0.68 (NspI-) and 0.32 (NspI+), for NPY 0.78 (DraI+) and 0.22 (DraI-) and for GNRHR 0.54 (Bpu1102I+) and 0.46 (Bpu1102I-). Trait data from a total of 772 hens in 67 sire families from one generation of the pedigree dam line were recorded. However, the analysis used only the offspring of heterozygous sires to reduce the influence of selection and genetic background (n=33 sire families for GHR; n=14 sire families for NPY; n=36 sire families for GNRHR). A dominance effect of NPY on age at first egg and an additive effect of GNRHR on the number of double-yolked eggs were found (P<0.05).

Animals↗
PubMed2005

Genetic variation in male and female reproductive characters associated with sexual conflict in Drosophila melanogaster.

Recent studies have shown that elevated mating, courtship and seminal substances affect female fitness negatively in Drosophila melanogaster. It has also been shown that males vary with respect to these characters and that male harm to females correlates positively with components of male fitness. These results suggest that there is sexual conflict over the effect of such male characters. An important component of this scenario is that females have evolved counteradaptations to male harm, but so far there is limited evidence for this. Here I define female resistance as the ability to withstand an increased exposure to males. Across 10 genetically differentiated lines of D. melanogaster, I found genetic variation among females in the reduction of lifespan that followed from exposure to males of different durations. There was also genetic variation among males with regards to the degree to which they decrease the lifespan of their mates. These results suggest that genetic variation for female ability to endure male sexually antagonistic adaptations exists and may play an important role in male-female coevolution.

Adaptation, Physiological↗
PubMed2000

Xenobiotic metabolism, genetic polymorphisms and male infertility.

Male reproductive function may be impaired by various occupational and environmental chemical agents. The majority of these xenobiotics, however, require metabolic activation in order to exert adverse effects via covalent interactions between intermediate metabolites and cellular macromolecules such as DNA or protein. In addition, metabolization may alter endocrine-disrupting properties of xenobiotics. Thus tissue-specific expression and regulation of multiple xenobiotic-metabolizing enzymes are likely to play an important role in chemically induced disorders of male reproductive organs. Recent studies suggest that genetic polymorphisms underlying inter-individual and inter-ethnic variability of xenobiotic metabolism modulate susceptibility to male reproductive disorders. For cytochrome P450 1A1 (CYP1A1), a key enzyme in extra-hepatic metabolic activation of lipophilic xenobiotics, increased frequencies of two genetically linked polymorphisms have been found among infertile men.

Enzymes↗
PubMed1994

Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group.

Ebstein's anomaly is a specific structural deformity of the tricuspid valve, and its rarity has hampered etiologic evaluation. Cases of Ebstein's anomaly registered in the Baltimore Washington Infant Study (BWIS), a regional case-control study of cardiovascular malformations (CVM) in infancy, are reviewed. Between 1981 and 1989 a total of 4,390 CVM cases, including 47 Ebstein cases, and 3,572 controls were registered. The prevalence of Ebstein's anomaly was 5.2 per 100,000 livebirths. Additional cardiac anomalies were present in 38.3% of Ebstein cases. Non-cardiac malformations were present in 19.1% of Ebstein cases vs. 25.5% of other CVM, and 1.7% of controls. Case-fatality by 1 year of age was 23.4% in Ebstein vs. 18.1% in other CVM. Interviews of parents of Ebstein cases, other CVM, and controls (n = 44, 3,335, and 3,572, respectively) elicited information on family history of malformations, maternal illnesses, reproductive history, therapeutic drugs, parental lifestyle, and environmental exposures during the periconceptional period. Case-control analyses suggest genetic, reproductive, and environmental risk factors: twins [odds ratio (OR) 8.2, 95% confidence interval (CI) 2.6-25.3]; family history of CVM (OR 6.4, 95% CI 1.8-22.2); white race (OR 2.9 with non-whites as reference, 95% CI 1.2-7.0); previous miscarriages (OR 2.0, 95% CI 1.2-3.3); maternal exposure to benzodiazepines (OR 5.4, 95% CI 1.5-19.1); and varnishing (OR 3.4, 95% CI 1.3-9.1). Additional multicenter investigations are warranted to elucidate the role of genetic, reproductive, and environmental factors in the etiology of this anomaly.

Adult↗
PubMed2003

The evolution of reproductive isolation through sexual conflict.

Classical population-genetics theory suggests that reproductive isolation will evolve fastest in small isolated populations. In contrast, recent theory suggests that divergence should occur fastest in larger allopatric populations. The rationale behind this is that sexual conflict, potentially the strongest driver of speciation, is greater in larger, higher-density populations. This idea is highly controversial and has little experimental support. Here we show, using replicate fly populations with varying levels of sexual conflict, that larger, more dense populations with more sexual conflict diverged to a greater degree than small populations with relaxed conflict. This result strongly suggests that speciation can occur rapidly in large populations through increased sexual conflict.

Animals↗
PubMed2006

Analysis of reproductive performance of lactating cows on large dairy farms using machine learning algorithms.

The fertility of lactating dairy cows is economically important, but the mean reproductive performance of Holstein cows has declined during the past 3 decades. Traits such as first-service conception rate and pregnancy status at 150 d in milk (DIM) are influenced by numerous explanatory factors common to specific farms or individual cows on these farms. Machine learning algorithms offer great flexibility with regard to problems of multicollinearity, missing values, or complex interactions among variables. The objective of this study was to use machine learning algorithms to identify factors affecting the reproductive performance of lactating Holstein cows on large dairy farms. This study used data from farms in the Alta Genetics Advantage progeny-testing program. Production and reproductive records from 153 farms were obtained from on-farm DHI-Plus, Dairy Comp 305, or PCDART herd management software. A survey regarding management, facilities, labor, nutrition, reproduction, genetic selection, climate, and milk production was completed by managers of 103 farms; body condition scores were measured by a single evaluator on 63 farms; and temperature data were obtained from nearby weather stations. The edited data consisted of 31,076 lactation records, 14,804 cows, and 317 explanatory variables for first-service conception rate and 17,587 lactation records, 9,516 cows, and 341 explanatory variables for pregnancy status at 150 DIM. An alternating decision tree algorithm for first-service conception rate classified 75.6% of records correctly and identified the frequency of hoof trimming maintenance, type of bedding in the dry cow pen, type of cow restraint system, and duration of the voluntary waiting period as key explanatory variables. An alternating decision tree algorithm for pregnancy status at 150 DIM classified 71.4% of records correctly and identified bunk space per cow, temperature for thawing semen, percentage of cows with low body condition scores, number of cows in the maternity pen, strategy for using a clean-up bull, and milk yield at first service as key factors.

Algorithms↗
PubMed2005

Genetic markers for stallion fertility--lessons from humans and mice.

Our knowledge on the many aspects of mammalian reproduction in general and equine reproduction in particular has greatly increased during the last 15 years. Advances in the understanding of the physiology, cell biology, and biochemistry of reproduction have facilitated genetic analyses of fertility. Currently, there are more than 200 genes known that are involved in the production of fertile sperm cells. The completion of a number of mammalian genome projects will aid in the investigation of these genes in different species. Great progress has been made in the understanding of genetic aberrations that lead to male infertility. Additionally, the first genetic mechanisms are being discovered that contribute to the quantitative variation of fertility traits in fertile male animals. As artificial insemination (AI) represents a widespread technology in horse breeding, semen quality traits may eventually become an additional selection criterion for breeding stallions. Current research activities try to identify genetic markers that correlate to these semen quality traits. Here, we will review the current state of genetic research in male fertility and offer some perspectives for future research in horses.

Animals↗
PubMed1984

Reproductive performance in a diallel cross among lines of mice selected for litter size and body weight.

Genetic factors affecting female reproductive performance in lines of mice with a known history of selection were estimated from a 5 X 5 diallel cross. Lines were selected as follows: large litter size at birth (L+); large 6-wk body weight (W+); an index for large litter size and small 6-wk body weight (L+W-); the complementary index (L-W+) and randomly (K). Partitioning of direct and correlated responses for litter size, 6-wk body weight and related traits into average direct genetic (li) and average maternal genetic (mi) effects indicated that the magnitude of differences in li exceeded those in mi. Lines having positive responses in li were W+ greater than L+ greater than L-W+ for dam body weight, L+ greater than L+W- greater than W+ for litter size and L+ greater than (W+, L+W-) for litter birth weight, whereas L-W+ responded negatively for litter size. A positive association was found between mi for litter size and dam body weight, W+ and L-W+ being high and L+ and L+W- low for both traits. Female infertility and time from male exposure to parturition had relatively small correlated responses. Line rankings in general combining ability (gi) and net line effects were similar for the respective traits. Depending upon the line and trait involved, the relative contribution of average direct genetic and line direct heterotic (hi) effects to general combining ability [gi = (1/2) li + hi] varied. Line heterosis refers to average heterosis in crosses involving that line. Direct heterosis ( hij ) for each trait differed considerably among crosses. The three crosses showing the highest hij for litter size at birth, W+ X L-W+ (1.78), L+ X W+ (1.28) and L-W+ X L+W- (1.22), possibly had loci contributing directional dominance to litter size with frequencies of parental lines deviating in opposite directions relative to mean gene frequency. The correlation between absolute difference in parental line means and hij for litter size was not significant, suggesting that the magnitudes of absolute differences in parental means were not reliable predictors of divergence in gene frequency. Crossbred performance increased linearly with midparent values for litter size at birth (b = .88 +/- .09, R2 = .92) and dam parturition body weight (b = 1.13 +/- .04, R2 = .99), the latter trait showing an increase (P less than .01) in heterosis as midparent values increased.

Animals↗
PubMed1983

Testicular growth in boars of different genetic lines and its relationship to reproductive performance.

Testicular growth of 377 boars was compared by obtaining in situ measurements of testes width and length and excised tissue weights. Two experiments involved a line selected nine generations for ovulation rate (OR) and a control line (CL), and two experiments contained boars of the OR line and two other lines; WL, a Large White-Landrace cross, and a line founded by crossing lines OR and CL and selected six generations for increased average daily gain and decreased backfat (LG line). In situ testes measurements were similar for the OR and CL lines and were curvilinearly related to age. The LG line had smaller in situ measurements than the OR line (P less than .05) when both unadjusted means and means adjusted for body weight were compared. The OR line had 10.5% heavier testes than the CL line at 90.8 kg and a 9 to 15% advantage at 120, 141, 162 and 183 d of age. The OR line had more rapid testicular development from 120 to 183 d of age (P less than .05) than the CL line. The LG line had significantly lower excised testes weights (17 to 50% less), a lower percentage of tubules that showed active spermatogenesis and lower mean diameter of the seminiferous tubules (P less than .05) than the OR line. The relative differences between lines OR, CL and LG suggest that selection for lean growth rate has resulted in less rapid testicular development and increased age at puberty. The correlations of testes weights and in situ testes measurements taken at the time of castration were between .76 and .93. The correlations of testes width and testes length with epididymides weights were slightly lower, and correlations of body weight and testes weight ranged from .51 to .70. Mean diameter of the seminiferous tubules and percentage of tubules with active spermatogenesis were correlated with measurements of testes size (r = .50 to .61) and body weight at the time of castration (r = .29 to .36). Correlations of excised testes weights with number born in the boar's contemporary litter and ovulation rate of full sibs were uniformly positive. The correlations of measurements of testes size and backfat (r = -.09 to .20) suggest that the phenotypic relationship between testes growth and body composition is small. However, the response found in the LG line suggests a negative genetic relationship between lean growth rate and testicular growth rate.

Animals↗
PubMed2002

Division of labour influences the rate of ageing in weaver ant workers.

The evolutionary theory of ageing predicts that the timing of senescence has been primarily shaped by the extrinsic mortality rate, which causes selection intensity to decline over time. One difficulty in testing the evolutionary theory of ageing is that extrinsic mortality risk is often confounded with body size and fecundity, which may also directly affect lifespan. Social insects with a pronounced division of labour between worker castes provide a unique opportunity to study the direct effect of extrinsic mortality on the evolution of ageing rates independently of body size, reproductive effort and genetic configuration. In the weaver ant, Oecophylla smaragdina, the major (large) workers perform the risky tasks outside the nest, while the minor (small) workers stay within the highly protected arboreal nest. Hence, this pronounced division of labour is associated with high differences in extrinsic mortality risks. The evolutionary theory of ageing predicts that the minor workers should have a longer intrinsic lifespan than the major workers. In line with this prediction, we found that in a protected environment the minor workers lived significantly longer than the major workers did. Hence, the ageing rate appears to have been moulded by variation in the extrinsic mortality rate independently of size, reproductive effort and genetic configuration.

Aging↗