Namesakes or relatives? Approaches to investigating the relationship between Y chromosomal haplogroups and surnames

Population genetics successfully applies surnames as quasi-genetic markers when estimating similarity between populations and calculating a measure of random inbreeding. These calculations are based on an isonomy coefficient which assumes that every surname is monophyletic: that it originated from single common ancestor and all namesakes are therefore relatives. On the other hand, there is a general opinion that a typical Russian surname is polyphyletic: it originated multiple times and most namesakes are therefore not related to each other. Combined studies of Y chromosomes and surnames now allow us to address this issue. In this study, we discuss approaches for statistical evaluation of Y chromosomal haplogroup frequencies in groups of people bearing the same surname (namesakes). We propose an 'Index of Accumulated Haplogroup Frequency', which allows for errors due to random (artifactual) effects increasing a haplogroup frequency in a group of namesakes by subtracting the population frequency of this haplogroup. This population frequency is calculated as the weighted average of the frequencies of this haplogroup in the populations that the carriers of this surname come from. Fom the total sample (comprising 1244 persons from 13 populations of the historical Russian area) we chose 123 persons carrying 14 surnames which were the most frequent in the total sample. Haplogroup frequencies in these 14 "surname" groups were compared with the respective 14 "population" control groups compiled from the total sample as described above. We found that even these widespread surnames exhibit non-random accumulation of specific Y chromosomal haplogroups. More detailed analyses of the relationships between namesakes could be carried out using Y-STR haplotypes rather than Y-SNP haplogroups, and will be the subject of a future study.     

Is there a relationship between sperm chromosome abnormalities and sperm morphology?

This review explores the relationship between sperm chromosomal constitution and morphology. With the advent of techniques for obtaining information on the chromosome complements of spermatozoa, this relationship has been studied in fertile men and in men with a high frequency of chromosomal abnormalities. Using human sperm karyotype analysis, no relationship between sperm chromosome abnormalities and morphology was found in fertile men, translocation carriers or post-radiotherapy cancer patients. Fluorescence in situ hybridization (FISH) analysis has not generally revealed a specific association between morphologically abnormal sperm and sperm chromosome abnormalities, but has indicated that teratozoospermia, like other forms of abnormal semen profiles (aesthenozoospermia, oligozoospermia) is associated with a modest increase in the frequency of sperm chromosome abnormalities. However, FISH studies on some infertile men and mouse strains have suggested that certain types of morphologically abnormal spermatozoa, such as macrocephalic multitailed spermatozoa, are associated with a very significantly increased frequency of aneuploidy. Thus, there may be an association between sperm morphology and aneuploidy in infertile men with specific abnormalities.     

＂Micro-deletions＂ of the human Y chromosome and their relationship with male infertility

The Y chromosome evolves from an autochromosome and accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes.The human Y chromosome (60 Mb long) is largely composed of repeti-tive sequences that give it a heterochromatic appearance,and it consists of pseudoautosomal,euchromatic,and heterochromatic regions.Located on the two extremities of the Y chromosome,pseudoautosomal regions 1 and 2 (PAR1 and PAR2,2.6 Mb and 320 bp long,re-spectively) are homologs with the termini of the X chromosome.The euchromatic region and some of the repeat-rich heterochromatic parts of the Y chromosome are called "male-specific Y" (MSY),which occupy more than 95% of the whole Y chromosome.After evolu-tion,the Y chromosome becomes the smallest in size with the least number of genes but with the most number of copies of genes that are mostly spermatogenesis-related.The Y chromosome is characterized by highly repetitive sequences (including direct repeats,inverted repeats,and palindromes) and high polymorphism.Several gene rearrangements on the Y chromosome occur during evolution owing to its specific gene structure.The consequences of such rearrangements are not only loss but also gain of specific genes.One hundred and fifty three haplotypes have been discovered in the human Y chromosome.The structure of the Y chromosome in the GenBank belongs to haplotype R1.There are 220 genes (104 coding genes,111 pseudogenes,and 5 other uncategorized genes) according to the most recent count.The 104 coding genes encode a total of about 48 proteins/protein families (including putative proteins/protein families).Among them,16 gene products have been discovered in the azoospermia factor region (AZF) and are related to spermatogenesis.It has been dis-covered that one subset of gene rearrangements on the Y chromosome,"micro-deletions",is a major cause of male infertility in some populations.However,controversies exist about different Y chromosome haplotypes.Six AZFs of the Y chromosome have been discov-ered including AZFa,AZFb,AZFc,and their combinations AZFbc,AZFabc,and partial AZFc called AZFc/gr/gr.Different deletions in AZF lead to different content spermatogenesis loss from teratozoospermia to infertility in different populations depending on their Y hap-lotypes.This article describes the structure of the human Y chromosome and investigates the causes of micro-deletions and their relation-ship with male infertility from the view of chromosome evolution.After analysis of the relationship between AZFc and male infertility,we concluded that spermatogenesis is controlled by a network of genes,which may locate on the Y chromosome,the autochromosomes,or even on the X chromosome.Further investigation of the molecular mechanisms underlying male fertility/infertifity will facilitate our knowledge of functional genomics.     

Y chromosome and male infertility: what is a normal Y chromosome?

The human Y chromosome contains a number of genes and gene families that are essential for germ cell development and maintenance. Many of these genes are located in highly repetitive elements that are subject to rearrangements. Deletion of azoospermia factor (AZF) regions AZFa, AZFb, and AZFc are found in approximately 10-15% of men with severe forms of spermatogenic failure. Several partial AZFc deletions have been described. One of these, which removes around half of all the genes within the AZFc region, appears to be present as an inconsequential polymorphism in populations of northern Eurasia. A second deletion, termed gr/gr, also results in the absence of several AZFc genes and it may be a genetic risk factor for spermatogenic failure. However, the link between these partial deletions and fertility is unclear. The gr/gr deletion is not a single deletion but a combination of deletions that vary in size and complexity and result in the absence of different genes. There are also regional or ethnic differences in the frequency of gr/gr deletions. In some Y-chromosome lineages, these deletions appear to be fixed and may have little influence on spermatogenesis. Most of these data (gene content and Y chromosome structure) have been deduced from the reference Y chromosome sequence deposited in NCBI. However, recently there have been attempts to define these types of structural rearrangements in the general population. These have highlighted the considerable degree of structural diversity that exist. Trying to correlate these changes with the phenotypic variability is a major challenge and it is likely that there will not be a single reference (or normal) Y chromosome sequence but many.     

How did the guppy Y chromosome evolve?

The sex chromosome pairs of many species do not undergo genetic recombination, unlike the autosomes. It has been proposed that the suppressed recombination results from natural selection favouring close linkage between sex-determining genes and mutations on this chromosome with advantages in one sex, but disadvantages in the other (these are called sexually antagonistic mutations). No example of such selection leading to suppressed recombination has been described, but populations of the guppy display sexually antagonistic mutations (affecting male coloration), and would be expected to evolve suppressed recombination. In extant close relatives of the guppy, the Y chromosomes have suppressed recombination, and have lost all the genes present on the X (this is called genetic degeneration). However, the guppy Y occasionally recombines with its X, despite carrying sexually antagonistic mutations. We describe evidence that a new Y evolved recently in the guppy, from an X chromosome like that in these relatives, replacing the old, degenerated Y, and explaining why the guppy pair still recombine. The male coloration factors probably arose after the new Y evolved, and have already evolved expression that is confined to males, a different way to avoid the conflict between the sexes.     

Overweight and poor? On the relationship between income and the body mass index

Contrary to conventional wisdom, NHANES data indicate that the poor have never had a statistically significant higher prevalence of overweight status at any time in the last 35 years. Despite this empirical evidence, the view that the poor are less healthy in terms of excess accumulation of fat persists. This paper provides evidence that conventional wisdom is reflecting important differences in the relationship between income and the body mass index. The first finding is based on distribution-sensitive measures of overweight which indicates that the severity of overweight has been higher for the poor than the nonpoor throughout the last 35 years. The second finding is from a newly introduced estimator, unconditional quantile regression (UQR), which provides a measure of the income-gradient in BMI at different points on the unconditional BMI distribution. The UQR estimator indicates that the strongest relationship between income and BMI is observed at the tails of the distribution. There is a statistically significant negative income gradient in BMI at the obesity threshold and some evidence of a positive gradient at the underweight threshold. Both of these UQR estimates imply that for those at the tails of the BMI distribution, increases in income are correlated with healthier BMI values.     

What determines the relationship between plant diversity and habitat productivity?

The relationship between biodiversity and habitat productivity has been a fundamental topic in ecology. Although the relationship between these parameters may exhibit different shapes, the unimodal shape has been frequently encountered. The decrease in diversity at high productivity has usually been attributed to competitive exclusion. We suggest that evolutionary history and dispersal limitation may be even more important in shaping the diversity–productivity relationship. On a global scale, unimodal diversity–productivity relationships dominate in temperate regions, whereas positive relationships are more common in the tropics. This difference can be accounted for by contrasting evolutionary history. Temperate regions have smaller species pools for productive habitats since these habitats have been scarce historically for speciation, while the opposite is true for the tropics. In addition, dispersal within a region may limit diversity either due to the lack of dispersal syndromes at low productivity or the low number of diaspores at high productivity. Thereafter, biotic interactions (competition and facilitation) can shape the relationship. All these processes can act independently or concurrently. We recommend that the common approach to examining empirical diversity–environmental relationships should start with the role of large‐scale processes such as evolutionary history and dispersal limitation, followed by influences associated with ecological interactions.     

Is ZFY the sex-determining gene on the human Y chromosome?

The sex-determining region of the human Y chromosome contains a gene, ZFY, that encodes a zinc-finger protein. ZFY may prove to be the testis-determining factor. There is a closely related gene, ZFX, on the human X chromosome. In most species of placental mammals, we detect two ZFY-related loci: one on the Y chromosome and one on the X chromosome. However, there are four ZFY-homologous loci in mouse: Zfy-1 and Zfy-2 map to the sex-determining region of the mouse Y chromosome, Zfx is on the mouse X chromosome, and a fourth locus is autosomal.     

Genetic relationship between Mongolian and Norwegian horses?

Human populations of Central Asian origin have contributed genetic material to northern European populations. It is likely that migrating humans carried livestock to ensure food and ease transportation. Thus, eastern genes could also have dispersed to northern European livestock populations. Using microsatellite data, we here report that the essentially different genetic distances DA and (deltamu)2 and their corresponding phylogenetic trees show close associations between the Mongolian native horse and northern European horse breeds. The genetic distances between the northern European breeds and Standardbred/Thoroughbred, representing a southern-derived source of horses, were notably larger. We suggest that contribution of genetic material from eastern horses to northern European populations is likely to have occurred.     

Is the relationship between fertility of parents and children really weak?

The relationship between fertility of parents and children has been designated as "weak" by most investigators. This paper reviews the evidence over the past century and argues that, even allowing for problems with available data sources, the relationship was probably close to zero for pre-transitional populations. However, over time, the relationship has tended to become more substantial and is now of a similar order of magnitude in developed countries as other widely used explanatory variables. Possible mechanisms for the observed relationship are discussed, especially the roles of socialization and inherited factors. The types of data used are compared to the scientific questions posed, and the limitations of the common comparison of married-mother/married-daughter pairs are considered. Finally, some evidence from recent large-scale surveys in Britain and the United States is presented to show changes over recent periods and the relative effects of sibship size of fathers and mothers.     

What is the relationship between the global structures of apo and holo proteins?

It is well known that ligand binding and release may induce a wide range of structural changes in a receptor protein, varying from small movements of loops or side chains in the binding pocket to large‐scale domain hinge‐bending and shear motions or even partial unfolding that facilitates the capture and release of a ligand. An interesting question is what in general are the conformational changes triggered by ligand binding? The aim of this work is analyze the magnitude of structural changes in a protein resulting from ligand binding to assess if the state of ligand binding needs to be included in template‐based protein structure prediction algorithms. To address this issue, a nonredundant dataset of 521 paired protein structures in the ligand‐free and ligand‐bound form was created and used to estimate the degree of both local and global structure similarity between the apo and holo forms. In most cases, the proteins undergo relatively small conformational rearrangements of their tertiary structure upon ligand binding/release (most root‐mean‐square‐deviations from native, RMSD, are <1 Å). However, a clear difference was observed between single‐ and multiple‐domain proteins. For the latter, RMSD changes greater than 1 Å and sometimes larger were found for almost 1/3 of the cases; these are mainly associated with large‐scale hinge‐bending movements of entire domains. The changes in the mutual orientation of individual domains in multiple‐domain proteins upon ligand binding were investigated using a mechanistic model based on mass‐weighted principal axes as well as interface buried surface calculations. Some preferences toward the anticipated mechanism of protein domain movements are predictable based on the examination of just the ligand‐free structural form. These results have applications to protein structure prediction, particularly in the context of protein domain assembly, if additional information concerning ligand binding is exploited. Proteins 2008. © 2007 Wiley‐Liss, Inc.     

What is the relationship between the endothelium derived relaxant factor and nitric oxide?

Nitric oxide gas in solution (NO) relaxes blood vessels with similar actions and pharmacodynamics as the endothelium derived relaxant factor (EDRF) and has been proposed to be a component of the materials released from stimulated endothelial cells. Certain data however suggest that EDRF and NO may not be identical. In some non-vascular smooth muscles, NO and EDRF exhibit markedly different pharmacologic profiles. Furthermore the interaction of EDRF and NO with anion exchange resins differ. The hypothesis that EDRF is identical to nitric oxide gas in solution or a nitrogen oxide containing compound is discussed.     

Approaches to valuing plant medicines: the economics of culture or the culture of economics?

This paper explores the scope and limitations of the economic valuation of biodiversity. How and why is this a useful exercise, but in what way is its usefulness constrained? These issues are discussed with particular reference to cultural values within the context of medicinal plants and phytopharmaceutical development. It is argued that whilst economic valuation is an extremely important and necessary aid to formulating conservation policy, it probably is not that informative about the motivations of people in their use of certain natural resources. This is especially true for the case of medicinal plants where belief systems about the causes of disease and therefore strategies for healing are important. The paper reviews studies which have attempted to put monetary values on medicinal plants and the option values of pharmaceuticals developed from plants, and discusses the applicability of the various approaches. The implications for conservation policy, and for likely collaboration between social and natural scientists is discussed.     

Trade-offs between the reproductive and immune systems: facultative responses to resources or obligate responses to reproduction?

A major challenge in biology is understanding how organisms partition limited resources among physiological processes. For example, offspring production and self-maintenance are important for fitness and survival, yet these critical processes often compete for resources. While physiological trade-offs between reproduction and immune function have been documented, their regulation remains unclear. Most current evidence suggests that physiological changes during specific reproductive states directly suppress various components of the immune system; however, some studies have not found this clear relationship. We performed two experiments in female tree lizards (Urosaurus ornatus) that demonstrate the presence of trade-offs between the reproductive and immune systems under controlled laboratory conditions. These results also support the hypothesis that these trade-offs are a facultative response to resource availability and are not obligatory responses to physiological changes during reproduction. We found that (1) experimentally increasing reproductive investment under limited resources resulted in suppressed immune function and (2) experimentally limiting resources resulted in immunosuppression but only during resource costly reproductive activities. There seems to be a critical balance of resources that is maintained between multiple processes, and changes in the balance between energy intake and output can have major consequences for immune function.     

National Approaches to Monitoring Population Salt Intake: A Trade-Off between Accuracy and Practicality?

Aims

There is strong evidence that diets high in salt are bad for health and that salt reduction strategies are cost effective. However, whilst it is clear that most people are eating too much salt, obtaining an accurate assessment of population salt intake is not straightforward, particularly in resource poor settings. The objective of this study is to identify what approaches governments are taking to monitoring salt intake, with the ultimate goal of identifying what actions are needed to address challenges to monitoring salt intake, especially in low and middle-income countries.

Methods and Results

A written survey was issued to governments to establish the details of their monitoring methods. Of the 30 countries that reported conducting formal government salt monitoring activities, 73% were high income countries. Less than half of the 30 countries, used the most accurate assessment of salt through 24 hour urine, and only two of these were developing countries. The remainder mainly relied on estimates through dietary surveys.

Conclusions

The study identified a strong need to establish more practical ways of assessing salt intake as well as technical support and advice to ensure that low and middle income countries can implement salt monitoring activities effectively.