Natural selection at the MJD locus: phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores.

Machado-Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset, associated with the expansion of a (CAG)n tract in the coding region of the causative gene, localized on 14q32.1. Machado-Joseph Disease shows non-Mendelian features typical of other triplet repeat disorders, including clinical heterogeneity, variable age at onset and anticipation. Three phenotypes have been proposed (clinical types 1, 2 and 3). Type 1 is associated with early age at onset and a high repeat number of the CAG sequence, and Types 2 and 3 have later onset and lower numbers of CAG repeats. This paper investigates whether there is selection against the MJD gene, acting through differential survival. nuptiality and fertility associated with clinical type and age at onset. The study sample comprised 40 MJD patients from the Azores (Portugal) having fully documented reproductive histories and known dates of death. The proportion of married patients of each clinical type increased from 0.22 among Type 1 patients, to 0.40 in Type 2 and 0.95 in Type 3. Age at onset and length of survival were also associated with marital status, with the married cases having later mean age at onset and longer mean survival time. In the whole sample, clinical type was associated with fertility, with significantly fewer children born to Type 1 patients. Among married patients clinical type was not associated with age at marriage, reproductive span or number of children. No reduction of fertility was detected among married patients in whom the onset of MJD was below the age of 50. The authors' interpretation of these results is that the high-repeat CAG haplotypes associated with early age at onset and clinical Type 1 are selected against through reduced survival and fertility. The fertility component of selection is mediated by nuptiality rather than marital fertility.     

Reproduction characteristics and crow’s index in different groups of yevpatoria population

According to the obstetric history of Yevpatoria residents of postreproductive age, the parameters of the differential fertility as components of the natural selection (index Crow) in Slavic (Russian and Ukrainian) and non-Slavic individuals have been calculated. It is shown that, in the studied population, in one generation, the index of total selection decreased from 0.3 to 0.32 by reducing the value I _m. For Slavic females, the average number of pregnancies is 5.26, while the number of offspring is 1.75, and the index of total selection equals 0.31. For non-Slavic women, these ratings were 4.84, 2.09, and 0.46. In non-Slavic women, natural reproductive losses occur more frequently than in Slavic women, which may be associated with inbreeding, the level of which is usually higher in members of the Muslim faith. The average number of adverse pregnancy outcomes in the non-Slavic families is 0.759, while for Slavic families, it is 0.503. Reproductive problems were observed in 36.4% of Slavic families and 44.8% of non-Slavic families. The index of total selection in non-Slavs (0.46) is 1.5 times higher than in Slavs (0.31). The difference is due to the selection component, coupled with differential fertility (0.36 and 0.23, respectively). Interethnic differences in the rate of natural increase can change the ethnic and denominational composition of the city, leading to an increase in the Muslim component.     

Fitness and fertility among Kalahari !Kung

In this paper we develop a model that examines fertility and childhood mortality patterns and their relationship to environmental variables. Interactions among environmental variables can account for different fertility patterns and different mixes of these variables can produce similar patterns of fertility. Our model attempts to quantify the idea that there is a trade-off between producing a few children likely to survive to reproductive age and producing a greater number of children with lower chances for survival. The optimum mix of these strategies depends on environmental characteristics. We use the model to make predictions about fertility and mortality patterns among two Bushmen populations of southern Africa--the Ghanzi and Ngamiland !Kung--using data collected by Harpending in 1967-1968. The results do not support explanations of the low fertilities observed among !Kung Bushmen women, in whom it is thought that fitness is maximized by limiting fertility, and show no relationship between mortality and family size in either !Kung population. Instead, the number of offspring reaching reproductive age in both populations increases as their completed family size increases. We examine the effects of sex, birth order, and paternal investment on mortality. No sex ratio differences and no differences in mortality by sex or birth order are present. Infant mortality among women who married more than once is significantly higher than among women who married once, suggesting that paternal care has a significant effect.     

Variation of natural reproduction parameters and Crow’s indices in different ethnic groups in the two largest megacities of Russia

Genetic-demographic parameters of natural reproduction in the most numerous ethnic groups of Moscow and St. Petersburg were assessed on the basis of the 2002 All-Russia Population Census data and other sources. The intensity of intragroup selection due to individual differences in fertility in the cohorts of women born in the 1930s–1950s decreased in all ethnic groups studied. It was concluded that, in both megacities, the relaxation of the selection component due to differential fertility almost stopped: the values of the Crow’s index I_f stabilized at 0.3 < I_f < 0.4, which was associated with relative stabilization of the interfamily variance of fertility. The temporal dynamics of the intensity of intergroup selection due to interethnic differences in fertility rates was more complex. It was only recently that this type of selection came into action, since even at the beginning of the 20th century fertility rates in various ethno-territorial and ethno-confessional groups of the population of the Russian Empire were similar (5–6 offspring per marriage). In the subsequent decades, interethnic differentiation in progeny size increased because the reproductive behavior of different population groups underwent “modernization” with uneven speed. In Moscow and St. Petersburg, the intensity of intergroup selection decreased in women birth cohorts of the 1930s–1950s, while it was an order of magnitude lower than the intragroup selection. Currently, the average number of offspring varies among ethnic groups in a narrow range from 1.3 to 1.6. It can be expected that interethnic differences in fertility rates in these megacities will increase again owing to growing numbers of migrants from regions with traditionally high birth rates, resulting in differential natural growth of ethnic groups and the corresponding dynamics of the gene pool of the population.     

Selection intensities in menopausal and permanent contraceptor women of a rural population in India

Changing fertility and mortality patterns due to socioeconomic forces have a profound effect on natural selection in human populations. The opportunity for selection was estimated in the rural population of Visakhapatnam District, Andra Pradesh, India, in 1979. A total of 1570 women were interviewed, 1544 among them had ever been pregnant. Data were analyzed to compute fertility and mortality components of the population. The index of total selection was found to be low. Selection in relation to birth control reveals that opportunity for selection is lower among women who completed their fertility by family planning methods than in women who completed their fertility by attaining menopause. Further, the results showed that differential fertility and mortality make equal contributions to the total measure of selection in both groups, whereas in developed countries like the US the mortality component contributes only a small fraction to the total index, due to improved health conditions.     

Deformed nasal septa and relaxed selection

Abstract

Demographic studies undertaken in several Andean countries have found that women residing at high altitudes have significantly fewer live births than do their low altitude counterparts. This reduction has been explained as being due to various factors: the debilitating effects of hypoxia upon the reproductive system; the effects of sociocultural factors which vary with altitude and which affect reproductive behavior; and errors in data collection. In order to examine the validity of some of these hypotheses, the fertility of a group of 906 Bolivian women residing at low, medium, and high altitudes was examined. The women were selected from the lower socioeconomic strata and reported never having used any method of contraception. A detailed analysis of the fertility of these women showed no significant altitude‐related differences in the number of live births. However, as a result of significantly higher childhood mortality rates at altitude, there was a significant reduction in numbers of living children. The results of this study suggest that the collection and analysis of census data that ignores socioeconomic differences within a population or differences among census units in neonatal or early childhood mortality may bias or complicate the study of the impact of altitude on human fertility. Although the present research does not prove that hypoxic stress does not affect the reproductive system, the results suggest that if altitude does reduce fecundity, the reduction is not great and is likely to be shown only through studies of reproductive physiology.     

How contemporary human reproductive behaviors influence the role of fertility-related genes: the example of the p53 gene

Studies on human fertility genes have identified numerous risk/protective alleles involved in the occurrence of reproductive system diseases causing infertility or subfertility. Investigations we carried out in populations at natural fertility seem to suggest that the clinical relevance that some fertility genes are now acquiring depends on their interaction with contemporary reproductive behaviors (birth control, delayed childbearing, and spacing birth order, among others). In recent years, a new physiological role in human fertility regulation has emerged for the tumor- suppressor p53 gene (P53), and the P53 Arg72Pro polymorphism has been associated with recurrent implantation failure in humans. To lend support to our previous observations, we examined the impact of Arg72Pro polymorphism on fertility in two samples of Italian women not selected for impaired fertility but collected from populations with different (premodern and modern) reproductive behaviors. Among the women at near-natural fertility (n = 98), the P53 genotypes were not associated with different reproductive efficiency, whereas among those with modern reproductive behaviors (n = 68), the P53 genotypes were associated with different mean numbers of children [Pro/Pro = 0.75相似文献   

Polygyny and fertility in Morocco: the effect of marital instability

This paper analyses the relationship between polygyny and female fertility in the province of Marrakech (Morocco) taking into account the effect of the previous marital instability (number of marriages) and the possible association between female sterility and type of marriage. In the analysed population, polygyny increases in the small towns. Polygynously married women have a higher level of education and show a higher percentage of use of contraceptive methods than the monogamously married ones. Although polygynously married women initially show lower fertility, multivariate analysis carried out on the group of women between 35 and 49 years old show that there are no significant differences in fertility between monogamously and polygynously married women when the effect of the previous marital instability is considerer. Female sterility does not determine marital instability, although it does determine a significant increase in polygynous marriages among the women without children.     

The preference for an additional child among married women in Seoul, Korea

South Korea reported a total fertility rate (TFR) of 1.08 in 2005. This is the lowest level of all nations in the Organisation for Economic Co-operation and Development (OECD). Recently, the decline in the fertility rate has been a dominant phenomenon in Korea's major cities. This study investigated the relationship between social environmental factors and fertility intentions for married women in Seoul, the capital of Korea, using a sample of 2211 married women who responded to the Seoul Citizens Health and Social Indicators Survey, 2005. Here, the effects of selected social environmental characteristics on fertility intentions are explored using multivariate logistic regression models. The relationships among a woman's age, number of living children, job type, housing type, and social group participation were strong indicators of the intention to have additional children. Younger women living with fewer children generally have a higher intention to have additional children. Among women's job types, blue-collar workers have a lower preference for additional children than white-collar workers and housewives. Married women participating in social groups have a lower preference for additional children than non-participants. Women's participation in social activities appears to have various benefits, both individually and socially. However, whereas women's participation in economic activities has been linked to questions of fertility in previous studies, the relationship between fertility and social activities has been downplayed. Women's participation in social activities has increased over the past several decades, and the trend continues to grow. Therefore, women's participation in social activities must be accepted as the status quo, and compatibility between women's participation in social activities and childrearing needs to be increased. Consequently, a strong foundation for a fertility-friendly environment is needed, focusing on blue-collar workers and participation in social activities by married women.     

37种杜鹃花属植物在迁地保育下的自然授粉研究

该文对主要栽培在四川都江堰龙池基地(海拔1 700 m)及玉堂基地(海拔700 m)和峨眉山生物试验站(海拔805 m)的5亚属15亚组37种杜鹃花属植物的自然授粉开展了为期4 a的数据采集与研究。以绿苗率(Gs)为主要指标,绿苗系数(Gc)、坐果率(St)和单位可育种子数(Sf)为辅助指标,初步揭示了迁地保育条件下杜鹃花属植物自然授粉的育性适应及其特征。结果表明:(1)除黄花杜鹃(Rhododendron lutescens)未形成种子外,受试的其他36个杜鹃花种类均能在其保育地点上不同程度地完成从种子(幼苗)到种子的生命循环,其中高可育型24种、可育型11种、弱育型1种。(2)上述4项指标,尤其是保育条件与原生地条件下同种的绿苗率、绿苗系数和单位能育种子数比较,均能不同程度地反映育性适合度的差异情况。(3)在上述具有不同程度可育性的36种杜鹃花中,有24种有不同程度的败育现象,其成因可能为不同程度的自交和花期重叠的同亚组到不同亚组异种间自然交配所引起的遗传不适,由于遗传选择的限制或胁迫,这种现象在一些开花个体有限的种类中尤为突出,因此保证最小存活种群(the minimum viable population,MVP)对于该属植物迁地保育至关重要。(4)杜鹃花属的特定种类可能存在一个受种性制约的单位种子数量幅度和上限,即不同的类群与种类的单位种子数量存在差异。(5)为探索自交和种间杂交提供了认识起点和参照,并提出了有关杜鹃花属植物可育性综合评价的指标体系和方法。     

Marital fertility in polygynous unions in Nigeria

The effect of polygyny on fertility, by age cohort, was examined in 4 regions of Nigeria through use of data from the 1981-82 Nigerian Fertility Survey. Simple tabulation of numbers of live births by maternal age and type of marriage union indicated that, with the exception of the 30-39-year age group, fertility in polygynous unions tends to be higher than that in monogamous marriages. Overall, such tabulations reveal an average of 3.90 births among polygynous women and 3.47 births among monogamous women. However, when age-specific fertility rates were compared, except for women under 20 and over 40 years of age, rates were higher in monogamous unions (7.286 overall) than for women in polygynous households (7.200 overall). Mean completed fertility, taking into account marriage duration as well, shows a tendency for women in polygynous unions to be more fertile (with the exception of women aged 25-44 years who had been married 10-19 years). The absolute difference in fertility between the 2 types of marital unions ranged from 0.32 children in the northwest to 0.64 in the southeast. With adjustment for independent variables such as education, the absolute mean differences were reduced, from between 0.28 children in the southeast to 0.42 in the northeast, but the direction of high fertility was still in favor of women in polygynous unions. But when the covariates (e.g., age at marriage) were taken into account as well as the independent variables, there was a dramatic reduction in the mean difference between the fertility of these 2 groups of women. These findings suggest that some changes in reproductive behavior are taking place in Nigeria that are restricting the fertility of women in polygynous unions. These changes are hypothesized to reflect the spread of formal education in Nigeria, with the expectation that women will contribute to the costs involved in educating their children.     

Sociodemographic attributes of Iranian wives who reported unwanted pregnancies

In a 1989 Family Planning Study in Iran, 40 percent of the married women of reproductive age reported that their last or current pregnancies were unwanted and unintended. This finding is consistent with the results obtained from a number of studies undertaken in the countries of North Africa and the Middle East. Although the phenomenon of unwanted pregnancy is a significant topic in the population studies, it has received very little attention. This paper shows the differences between two groups: group A, those married women who reported that their last or current pregnancies were wanted, and group B, those married women who reported that their last or current pregnancies were unwanted. The findings of this study clearly show significant differences between these two groups in regard to some key sociodemographic attributes: wife/husband's education, actual and desired fertility, wife's current age, past and present practice of contraceptive methods, and extent of satisfaction with family planning services are among the attributes differentiating these two groups. Our examination of these variables suggests that group B had higher parity, fertility, less desire for more children, less use of contraceptive techniques, and less satisfaction with the efficiency of the contraceptive techniques than group A. The relationship between education and wanted/unwanted pregnancies is mixed. The urban women who wanted pregnancies and were 25 years old or older were more educated than those who did not want pregnancies. On the contrary, the rural women whose pregnancies were not wanted were more educated than those who wanted pregnancies regardless of age, parity, and locality differences. Furthermore, the urban/rural women with different levels of parities who did not want to be pregnant were more educated than the urban/rural women who wanted pregnancies. Finally, the standardized regression coefficients, obtained in logistic regression, reveal that among urban women the desire for more children and parity are the first and second most significant independent variables differentiating between group A and group B. Among rural women, living children and the desire for more children were the first and second most important variables differentiating between group A and group B.     

Natural selection on age-specific fertilities in human females: comparison of individual-level fitness measures.

Lifetime reproductive success and timing of reproduction are key components of life-history evolution. To understand the evolution of reproductive schedules, it is important to use a measure of fitness that is sensitive both to reproductive quantity and reproductive timing. There is a contradiction between the theory, which mainly focuses on the rate measures of fitness (r and lambda), and empirical studies, which mainly use lifetime reproductive success (LRS), or some of its correlates, as a fitness measure. We measured phenotypic selection on age-specific fertilities in three pre-modern human populations using individually estimated finite rate of increase, er (lambda). We found that lambda and lifetime reproductive success ranked individuals differently according to their fitness: for example, a female giving birth to four children at a young age may actually have a higher fitness than a female giving birth to six children at a greater age. Increase in fertility at the young age classes (15-19 years) was favoured by selection, but the intensity of selection on fertility was higher in the older age classes (20-30 years), where the variance in fertility was highest. Hence, variation in fertility in the older age classes (20-30) was actually responsible for most of the observed variation in fitness among the individuals. Additionally, more than 90% of variation in fitness (lambda) was attributable to individual differences in LRS, whereas only about 5% of all variation in fitness was due to differences in the reproductive schedule. The rate-sensitive fitness measure did not significantly challenge the importance of total fertility as a component of fitness in humans. However, the rate-sensitive measure clearly allowed more accurate estimation of individual fitness, which may be important for answering some more specific questions.     

Sex Differences in Mobility and Spatial Cognition

The fertility and parental care hypothesis interprets sex differences in some spatial-cognitive tasks as an adaptive mechanism to suppress women’s travel. In particular, the hypothesis argues that estrogens constrain travel during key reproductive periods by depressing women’s spatial-cognitive ability. Limiting travel reduces exposure to the dangers and caloric costs of navigating long distances into unfamiliar environments. Our study evaluates a collection of predictions drawn from the fertility and parental care hypothesis among the Twe and Himba people living in a remote region of Namibia. We find that nursing mothers travel more than women at any other stage of their reproductive career. This challenges the assumption that women limit travel during vulnerable and energetically demanding reproductive periods. In addition, we join previous studies in identifying a relationship between spatial ability and traveling among men, but not women. If spatial ability does not influence travel, hormonally induced changes in spatial ability cannot be used as a mechanism to reduce travel. Instead, it appears the fitness consequences of men’s travel is a more likely target for adaptive explanations of the sex differences in spatial ability, navigation, and range size.     

The demographic transition: are we any closer to an evolutionary explanation?

The radical shift in human reproduction in the late 19th century, known as the demographic transition, constitutes a major challenge to evolutionary approaches to human behaviour. Why would people ever choose to limit their reproduction voluntarily when, at the peak of the Industrial Revolution, resources were apparently so plentiful? Can the transition be attributed to standard life history tradeoffs, is it a consequence of cultural evolutionary processes, or is it simply a maladaptive outcome of novel and environmental social conditions? Empirical analyses and new models suggest that reproductive decision making might be driven by a human psychology designed by natural selection to maximize material wealth. If this is the case, the mechanisms governing fertility and parental investment are likely to respond to modern conditions with a fertility level much lower than that that would maximize fitness.     

Desire for sons and subsequent fertility in rural India. A 20-year longitudinal study

This paper compares the desired fertility of rural Indian women in 1987 with their actual fertility in 2007. Seventy-one respondents who stated definite fertility intentions and had fewer children than desired in 1987 were re-interviewed 20 years later, as part of a larger study. The results indicated that these women had fewer children than intended and stopped childbearing once they reached, or approximated, their desired number of sons. The majority had been sterilized, indicating broad acceptance of lower fertility among rural women and the success of India's family planning efforts, although the practice of sex determination seems also to have played a role. These findings echo those of an earlier longitudinal study of reproductive intentions and outcomes in the same community, demonstrating the persistence of son preference in determining reproductive behaviour, even in the context of low overall fertility. The paper concludes with a discussion of the policy and programme implications of the study's findings.     

The delineation of fertility strategies in a tribal population of India: the Koyas of Koraput District,Orissa

Demographic data collected for a tribal population of India, the Koyas of Koraput District, Orissa, were examined in light of 2 models of reproductive behavior associated with the economic value of children: the replacement effect and son survivorship motivation. Both models are united in the concept that infant/child mortality affects subsequent fertility. The database consists of retrospective fertility histories of Koya women who had completed their reproductive period. The total number was 260, with the total offspring numbering 1407. 2 distinct cohorts of women were formed for the purpose of analysis, separated only by the criterion of offspring survival: women who had experienced infant child mortality (129 women with 739 children); and women who completed their reproductive period without suffering offspring loss of this nature (132 women with 668 children). The cohort without child loss had a mean parity of 5.10, lower than the average parity of 5.73 recorded for the cohort whose reproductive histories included at least 1 infant/child death. Age specific marital fertility and birth interval analyses indicated that this differential was because of biological, not behavioral, factors. The age pattern of fertility of females suffering offspring mortality failed to demonstrate a high rate of childbearing in the later age intervals of the reproductive period, a characteristic pattern of couples attempting to "replace" lost offspring. Birth interval analysis pointed to biological "interval effect," whereby infant/child mortality caused a cessation of lactation and hence a shortening of postpartum amenorrhea. Computer simulation further indicated that the higher fertility differential of the cohort experiencing offspring loss still did not result in high son survivorship values. The findings agree with earlier studies indicating that for predemographic transitional populations, economically motivated fertility strategies are ineffectual.     

Sociodemographic attributes of Iranian wives who reported unwanted pregnancies

Abstract

In a 1989 Family Planning Study in Iran, 40 percent of the married women of reproductive age reported that their last or current pregnancies were unwanted and unintended. This finding is consistent with the results obtained from a number of studies undertaken in the countries of North Africa and the Middle East. Although the phenomenon of unwanted pregnancy is a significant topic in the population studies, it has received very little attention. This paper shows the differences between two groups: group A, those married women who reported that their last or current pregnancies were wanted, and group B, those married women who reported that their last or current pregnancies were unwanted. The findings of this study clearly show significant differences between these two groups in regard to some key sociodemographic attributes: wife/husband's education, actual and desired fertility, wife's current age, past and present practice of contraceptive methods, and extent of satisfaction with family planning services are among the attributes differentiating these two groups. Our examination of these variables suggests that group B had higher parity, fertility, less desire for more children, less use of contraceptive techniques, and less satisfaction with the efficiency of the contraceptive techniques than group A. The relationship between education and wanted/unwanted pregnancies is mixed. The urban women who wanted‐pregnancies and were 25 years old or older were more educated than those who did not want pregnancies. On the contrary, the rural women whose pregnancies were not wanted were more educated than those who wanted pregnancies regardless of age, parity, and locality differences. Furthermore, the urban/rural women with different levels of parities who did not want to be pregnant were more educated than the urban/rural women who wanted pregnancies. Finally, the standardized regression coefficients, obtained in logistic regression, reveal that among urban women the desire for more children and parity are the first and second most significant independent variables differentiating between group A and group B. Among rural women, living children and the desire for more children were the first and second most important variables differentiating between group A and group B.     

Does natural selection favour taller stature among the tallest people on earth?

The Dutch are the tallest people on earth. Over the last 200 years, they have grown 20 cm in height: a rapid rate of increase that points to environmental causes. This secular trend in height is echoed across all Western populations, but came to an end, or at least levelled off, much earlier than in The Netherlands. One possibility, then, is that natural selection acted congruently with these environmentally induced changes to further promote tall stature among the people of the lowlands. Using data from the LifeLines study, which follows a large sample of the population of the north of The Netherlands (n = 94 516), we examined how height was related to measures of reproductive success (as a proxy for fitness). Across three decades (1935–1967), height was consistently related to reproductive output (number of children born and number of surviving children), favouring taller men and average height women. This was despite a later age at first birth for taller individuals. Furthermore, even in this low-mortality population, taller women experienced higher child survival, which contributed positively to their increased reproductive success. Thus, natural selection in addition to good environmental conditions may help explain why the Dutch are so tall.     

Desired family size, family planning and fertility in Ethiopia

This paper models the proximate determinants of children born to over 13,000 Ethiopian women and of the women's stated preferences for additional births using the data from the Ethiopian Demographic and Health Survey 2000. Empirical models for the number of children born to women were estimated using Poisson and ordinal regressions. The results show the importance of variables such as maternal education for smaller family size, and that variables reflecting desired family size are strong predictors of the numbers of children born to women. Secondly, binary logistic models for dichotomous variables for women not wanting more children and if getting pregnant would be a 'big problem' showed non-linear effects of the surviving and 'ideal' number of children. Moreover, the results indicated a desire on the part of women to limit family size, especially as the number of surviving children increased. Probit models were estimated to address potential endogeneity of certain variables. Overall, the results indicated that counselling couples about small family size and increasing the utilization of health care services can lower fertility in Ethiopia.