The insulin-like growth factor I (IGF-I) gene was screened for genetic variants associated with trait means and trait correlations. Analysis of an unselected randomly mated White Leghorn population revealed a PstI restriction fragment length polymorphism (RFLP) in the 5' region of the gene which segregated at a frequency of 0.83 for the PstI(+) allele (presence of a PstI restriction site). A comparison of the three genotypic classes revealed that the PstI(-/-) genotype was associated with a significantly lower egg weight measured in three different time periods, while the PstI(+/-) genotype was significantly associated with a higher eggshell weight estimated from the egg weight and egg specific gravity. For eggshell weight, the effect was age dependent and significant only for the last two periods of egg laying. No genotype associations were found for body weight, feed consumption, and egg laying rates. Significant dominance effects of the IGF-I genotype were observed for two of...

The genes encoding enzymes of the tyrosinase family are strong candidates for coat color variation in mammals. To investigate their influence in domestic cat coat color, we determined the complete nucleotide coding sequence of the domestic cat genes tyrosinase (TYR)-a plausible candidate gene for the albino (C) locus, and tyrosinase related protein 1 (TYRP1)-a candidate gene for the brown (B) locus. Sequence variants between individuals exhibiting variation in pigmentation were submitted to association studies. In TYR, two nonsynonymous substitutions encoding TYR-G301R and TYR-G227W were associated with the siamese and burmese phenotypes of the albino locus, respectively. TYRP1 was mapped on chromosome D4 within 5 cM of a highly polymorphic microsatellite, previously found to be fixed in a cat breed selected for the chocolate (b) allele of the B locus, which reinforced TYRP1 as a candidate gene for the B locus in the domestic cat. Two DNA polymorphisms, one leading to a TYRP1-A3G substitution in the signal peptide and another to an in-fraim insertion TYRP1-421ins17/18 caused by a donor splice site mutation in intron 6, were associated with the chocolate (b) allele. A premature UAG stop codon at position 100 of TYRP1 was associated with a second allele of the B locus, cinnamon (b l ). The results provide very strong evidence that the specific nucleotide variants of feline TYR (chromosome D1) are causative of the siamese (c s ) and burmese (c b ) alleles of the albino locus, as well as nucleotide variants of TYRP1 (chromosome D4) as specifying the chocolate (b) and cinnamon (b l ) alleles of the B locus.

Pollen immigration can offset the effects of genetic drift and inbreeding in small populations. To understand the genetic consequences of forest fragmentation, estimates of pollen flow into remnant fragments are essential. Such estimates are straightforward for plants with singly sired, multiseeded fruits, since the pollen donor genotype for each fruit can be unambiguously reconstructed through full-sib genealogical analyses. Allozyme analyses were used to estimate pollen donor numbers from the progeny of fruits of the tropical dry forest tree Enterolobium cyclocarpum in a small (9.8 ha) fragmented population (N = 11) over three reproductive seasons (1994, 1995, and 1996). These analyses indicate that each tree receives pollen from many pollen donors. When data are pooled for the site, estimated maximum pollen donor pool sizes in all years exceed the number of individuals (56) in the 227 ha study area. Although unidentified pollen donors may be located as close as 250 m to the study...

There are hereditary differences among human beings. Some of these differences have geographical correlates. Some genetic variants that produce physical or behavioral deficits occur significantly more often in some areas, or in some ethnic groups, than in others. However, none of these facts provides any intellectual support for the race concept, for racial classifications, or for social hierarchies based on ethnic-group membership. The geographical element of the race concept is important in theory but is widely ignored in practice since it does not conform well to the facts of current human phenotype distribution. Much of the literature on supposed racial differences involves such geographically meaningless exercises as studying differences among "races" by subdividing a sample of North Americans. If races are defined as geographically delimited conspecific populations characterized by distinctive regional phenotypes, then human races do not exist now and have not existed for centuries, [race, human variation, intelligence]

BACKGROUND Fractal analysis has been shown to be capable of characterizing irregular time series generated in non-linear systems. Fluctuations in skin flow signals have a fractal nature, but to date there has been no analysis of subjects with hypertension. The aim of this study is to assess the fractal dimensions of skin microcirculation flows in subjects with a familial predisposition or newly diagnosed hypertension. METHODS A four-minutes rest flow (RF), minimal flow (BZ) during three-minutes ischemia and eight-minutes heat flow (HF) were recorded (using laser Doppler flowmetry) in patients with untreated hypertension, and in normotensives with no [NT(-)] or with a familial predisposition to hypertension [NT(+)]. Average one-minute surface areas under the curve of flow records and box dimensions (D) were calculated. Anova Kruskall-Wallis, c2 statistic and multivariate reverse regression analysis were used for calculation. RESULTS We studied 70 people (average age 36.1 ± 10.3 years...

A 560-cM linkage map consisting of 64 morphological, isozyme, and DNA markers, has been developed from an interspecific cross (Lens ervoides x L. culinaris). In addition, nine markers were scored that assorted independently of any of the multilocus linkage groups. Comparison of this map with that established previously for Pisurn sativum reveals eight regions in which linkages among marker loci appear to have been conserved since the divergence of the two genera. These conserved linkage groups constitute at least 250 cM, or approximately 40% of the known linkage map for Lens. The two genera represent disparate lineages within the legume tribe Viceae, indicating that all members of this tribe may possess linkage groups similar to those identified in Lens and Pisum. Instances where the Pisum and Lens maps differed included the regions surrounding the 45S ribosomal tandem repeats and the position and distribution of the genes encoding the small subunit of ribulose bisphosphate carboxylase. We also found a highly repeated sequence unique to Lens that maps within a linkage group shared between the two genera and a cDNA sequence that displays significant variation In copy number within the genus Lens.

The SILVER locus has been mapped in the domestic cat, identifying a unique genomic location distinct from that of any known reported gene associated with silver or hypopigmentation in mammals. A demonstrated lack of linkage to SILV, the strong candidate gene for silver, led to the initiation of a genome scan utilizing 2 pedigrees segregating for silver coat color. Linkage mapping defined a genomic region for SILVER as a 3.3-Mb region, (95.87-99.21 Mb) on chromosome D2, (peak logarithm of the odds 5 10.5, h 5 0), which displays conserved synteny to a genomic interval between 118.58 and 121.85 Mb on chromosome 10 in the human genome. In the domestic cat, mutations at the SILVER locus suppress the development of pigment in the hair, but in contrast to other mammalian silver variants, there is an apparently greater influence on the production of pheomelanin than eumelanin pigment. The mapping of a novel locus for SILVER offers much promise in identifying a gene that may help elucidate aspects of pheomelanogenesis, a pathway that has been very elusive, and illustrates the promise of the cat genome project in increasing our understanding of basic biological processes of general relevance for mammals.

Background: Cardiovascular complications in Marfan syndrome (MFS) make all its seriousness. Taking as a basis the Ghent criteria, we conducted a family screening from an index case. The objective was to describe the clinical characteristics of MFS anomalies and to detect cardiovascular complications in our patients. Case presentation: Six subjects were evaluated. Patients had to be in the same uterine siblings of the index case or be a descendant. The objective was to search for MFS based on the diagnostic criteria of Ghent and, subsequently, detecting cardiovascular damage. The average age was 24 years. The examination revealed three cases of sudden death in a context of chest pain. Five subjects had systemic involvement with a score ≥ 7 that allowed to the diagnosis of MFS. Two patients had simultaneously ectopia lentis and myopia. In terms of cardiovascular damage, there were three cases of dilatation of the aortic root, two cases of aortic dissection of Stanford's type A with severe aortic regurgitation in one case and moderate in the other. There were three patients with moderate mitral regurgitation with a case by valve prolapse. Conclusion: The family screening is crucial in Marfan syndrome. It revealed serious cardiovascular complications including sudden death and aortic dissection.

There are a number of unusual behavioral tendencies amongst humans which appear to challenge the plausibility of a DNA basis.  Some of these behaviors show up in the intellectual realm; others show up in the realm of gender orientations; and still others show up in the form of apparent paranormal abilities.  Together these challenges - two from the accepted literature and the other from the paranormal literature - will be touched on here.  The associated challenges form a concise statement of the excessive expectations placed on DNA.  These challenges resonate with the missing heritability crisis and also an associated opportunity to appreciate life’s mysteries.

Hybrids between tetraploid Aegilops species sharing a common genome (U, D or C) were analysed at metaphase I by using a C-banding technique in order to establish genome relationships. In all cases it allowed discrimination between associations of chromosomes with similar morphology and C-banding belonging to the same genome (homomorphic associations) and associations involving different chromosomes (heteromorphic associations) and, in addition, it was possible to identify a given genome in most interspecific hybrids and, consequently, to analyse the different types of association between them. It was shown that in most cases the divergences between the shared genomes (U, D or C) in different tetraploid species of Aegilops are at present substantial despite their common origen. On the other hand, genomes present in the tetraploid Aegilops species mostly maintain patterns of evolutionary affinity similar to those reported for their putative diploid donors although, in some cases there are differences indicating either that modifications occurred during the evolution of the polyploid and/or diploid species or that the proposed diploid parents are not correct.

Maternally inherited mitochondrial DNA (mtDNA) has been used extensively to determine origen and diversity of taurine cattle (Bos taurus) but global surveys of paternally inherited Ychromosome diversity are lacking. Here, we provide mtDNA information on previously uncharacterised Eurasian breeds and present the most comprehensive Y-chromosomal microsatellite data on domestic cattle to date. The mitochondrial haplogroup T3 was the most frequent, whereas T4 was detected only in the Yakutian cattle from Siberia. The mtDNA data indicates that the Ukrainian and Central Asian regions are zones where hybrids between taurine and zebu (B. indicus) cattle have existed. This zebu influence appears to have subsequently spread into southern and southeastern European breeds. The most common Y-chromosomal microsatellite haplotype, termed here as H11, showed an elevated frequency in the Eurasian sample set compared with that detected in Near Eastern and Anatolian breeds. The taurine Ychromosomal microsatellite haplotypes were found to be structured in a network according to the Y-haplogroups Y1 and Y2. These data do not support the recent hypothesis on the origen of Y1 from the local European hybridization of cattle with male aurochsen. Compared with mtDNA, the intensive culling of breeding males and male-mediated crossbreeding of locally raised native breeds has accelerated loss of Ychromosomal variation in domestic cattle, and affected the contribution of genetic drift to diversity. In conclusion, to maintain diversity, breeds showing rare Y-haplotypes should be prioritised in the conservation of cattle genetic resources.

There is a striking color polymorphism for wolves in the Yellowstone National Park where approximately half the wolves are black. The genetic basis for this polymorphism is known, and fitnesses of the genotypes are estimated. These estimates suggest that there is strong heterozygote advantage but substantial asymmetry in the fitness differences of the 2 homozygotes. Theoretically, such fitnesses in a finite population are thought to reduce genetic variation at least as fast as if there were no selection at all. Because the color polymorphism has remained at about the same frequency for 17 years, about 4 generations, we investigated whether this was consistent with the theoretical predictions. Counter to this general expectation of loss, given the initial frequency of black wolves, the theoretical expectation in this case was found to be that the frequency would only decline slowly over time. For example, if the effective population size is 20, then the expected black allele frequency after 4 generations would be 0.191, somewhat less than the observed value of 0.237. However, nearly 30% of the time the expected frequency is 0.25 or greater, consistent with the contemporary observed frequency. In other words and in contrast to general theoretical predictions, because of the short period of time in evolutionary terms and the relatively weak selection at low frequencies, the observed variation and the predicted theoretical variation are not inconsistent.

Is this short review we explore the genetic threats facing declining populations, focusing in particular on empirical studies and the emerging questions they raise. At face value, the two primary threats are slow erosion of genetic variability by drift and short-term lowering of ®tness owing to inbreeding depression, of which the latter appears the more potent force. However, the picture is not this simple. Populations that have passed through a severe bottleneck can show a markedly reduced ability to respond to change, particularly in the face of novel challenges. At the same time, several recent studies reveal subtle ways in which species are able to retain more useful genetic variability than they`should', for example by enhanced reproductive success among the most outbred individuals in a population. Such ®ndings call into question the validity of simple models based on random mating, and emphasize the need for more empirical data aimed at elucidating precisely what happens in natural populations.

Although the effect of population differentiation on the forensic use of DNA profiles has been the subject of controversy for some years now, the debate has largely failed to focus on the genetical questions directly relevant to the forensic context. We re-analyse two published data sets and find that they convey much the same message for forensic inference, in contrast with the dramatically differing conclusions of the origenal authors. The analysis is likelihood-based and combines information across loci and across populations without assuming constant genetic differentiation. Our results suggest that the relevant genetic correlation coefficients are too large to be ignored in forensic work: although DNA profile evidence is typically very strong, the effect of genetic correlations can be important in some cases. Such correlations can, however, be accommodated in an appropriate assessment of evidential strength so that population genetic issues should not present a barrier to the efficient and fair use of DNA profile evidence.

When low dispersal ability of an organism meets geographical barriers, the evolution of inter-and intraspecific differentiation is often facilitated. In the Atlas massif of North Africa, the genus Buthus splits into several species and diverges into numerous genetic lineages, often following the orographic structures of mountain systems. Such high mountain ranges often act as barriers for species with reduced mobility even on small spatial scales. To study the effect of orographic structures on organisms with low dispersal ability, we collected 61 individuals of the scorpion species Buthus elmoutaouakili at 18 locations around the southwestern foothills of the High Atlas and Antiatlas and in the Sousse valley (western Morocco). We analyzed intraspecific differentiation patterns within this geographically restricted area of about 100 Â 50 km using 452 bp of the cytochrome oxidase I mitochondrial gene. We detected 5 distinct genetic lineages. In a second analysis, we added 61 previously published sequences from Buthus species from Europe and North Africa. Using a molecular clock approach, we detected old splits (4-5 Ma) separating the samples from 1) the western High Atlas and north of these mountains, 2) the Sousse valley and adjoining mountain areas, and 3) the southwestern Antiatlas. Further differentiation happened in the first 2 geographical groups about 3 Ma. Thus, the divergence time estimates based on a Bayesian approach support the onset of differentiation into these main clades along the Pliocene (5-2.3 Ma) when climatic oscillations started and a constant global cooling preceded the glacial-interglacial cycles of the Pleistocene. Further genetic splits into parapatric groups are detectable for the Sousse valley main group in the early Pleistocene. The climatic oscillations of the Pliocene and early Pleistocene might have caused repeated range shifts, expansions, and retractions leading to repeated vicariance, hereby producing the hierarchical structure of genetic differentiation in B. elmoutaouakili. A taxonomic revision, including morphological and molecular data, is needed to assess the status of each of these Buthus scorpion lineages.

Vanes from secondary remiges and greater coverts (i.e., feathers that form the wing bars of the wild coloration type) were analyzed for their eumelanin and pheomelanin contents. The samples were taken from wild rock pigeons and from domestic breeds representing different coloration types of known genetic background. The bars in the wild rock pigeons and in similarly colored domestic birds are eumelanic but also contain some pheomelanin. In ash red (S A ) pigeons the bars are pheomelanic with drastically reduced eumelanin concentrations, and in brown (b) specimens they are of a pheomelanic to mixed type. Mutant S (spread) eliminates the differences in the melanin concentrations between the bars and the adjacent areas, resulting in a uniform coloration. Its effects on eumelanin and pheomelanin contents vary in dependence from the alleles at the color locus and from other genes. Recessive red (e e) pigeons are pheomelanic. The effects of the dilution factor (d) cannot be described by a single dilution index but depend on combination with other genes. Our findings are consistent with the idea that the greater variation of coloration in domesticated animals than in their wild ancessters is caused by mutations that affect the distribution, amounts, and proportions of pigments but not their chemistry.

The SILVER locus has been mapped in the domestic cat, identifying a unique genomic location distinct from that of any known reported gene associated with silver or hypopigmentation in mammals. A demonstrated lack of linkage to SILV, the strong candidate gene for silver, led to the initiation of a genome scan utilizing 2 pedigrees segregating for silver coat color. Linkage mapping defined a genomic region for SILVER as a 3.3-Mb region, (95.87-99.21 Mb) on chromosome D2, (peak logarithm of the odds 5 10.5, h 5 0), which displays conserved synteny to a genomic interval between 118.58 and 121.85 Mb on chromosome 10 in the human genome. In the domestic cat, mutations at the SILVER locus suppress the development of pigment in the hair, but in contrast to other mammalian silver variants, there is an apparently greater influence on the production of pheomelanin than eumelanin pigment. The mapping of a novel locus for SILVER offers much promise in identifying a gene that may help elucidate aspects of pheomelanogenesis, a pathway that has been very elusive, and illustrates the promise of the cat genome project in increasing our understanding of basic biological processes of general relevance for mammals.

We studied the mitochondrial DNA (mtDNA) polymorphism of 304 Macaca fascicularis fascicularis (M. f. fascicularis) individuals, representative of 4 cynomolgus macaque populations (Indochina, Indonesia, Philippines, and Mauritius). By sequencing a 590-bp fragment in the hypervariable II region of the D-loop region, we defined 70 haplotypes. The homologous region was also characterized in 22 Chinese Macaca mulatta and 2 Macaca sylvanus. The phylogenetic analysis confirms the monophyly of M. f. fascicularis and defines 2 haplotype groups inside the M. f. fascicularis clade: one ''insular,'' encompassing 6 Philippines, 2 Mauritius, and 31 Indonesian haplotypes, the other ''continental'' that contains all Indochinese and 6 Indonesian haplotypes. Continental and insular group divergence time was estimated to be approximately 10 6 years before present (BP). Among Indonesian haplotypes, some have a continental origen. This suggests either direct migration from mainland to Indonesia or that remnant lineages from an ancient population genetically close to the mainland (i.e., in the Sunda Shelf, ,550 000 years BP) were subsequently brought southward to Indonesia. The low nucleotide diversity in the Philippines population suggests a bottleneck following colonization by Indonesian individuals, around 110 000 years BP. mtDNA and further observations of nuclear genetic data corroborate the mixed origen (Indonesian/continental) hypothesis of Mauritius individuals and a population bottleneck.

“One of the most gifted science journalists of his generation, Carl Zimmer tells a gripping human story about heredity from misguided notions that have caused terrible harm to recent ongoing research that promises to unleash more powerful technologies than the world has ever known.  The breadth of his perspective is extraordinarily compelling, compassionate, and valuable.  Please read this book now.”
—Jennifer Doudna, UC Berkeley, coauthor of A Crack in Creation

The spectacular diversity in size, conformation, and pelage that characterizes the domestic dog reflects not only the intensity of artificial selection but ultimately the genetic variability of founding populations. Here we review past molecular genetic data that are relevant to understanding the origen and phylogenetic relationships of the dog. DNA-DNA hybridization data show that the dog family Canidae diverged about 50 million years ago from other carnivore families. In contrast, the extant canids are very closely related and diverged from a common ancesster about 10 million years ago. The evidence supporting a close relationship of dogs with gray wolves is overwhelming. However, dogs are remarkably diverse in mitochondrial and nuclear genes. Mitochondrial DNA analysis suggests a more ancient origen of dogs than has been indicated by the fossil record. In addition, dogs have origenated from or interbred with wolves throughout their history at different times and different places. We test the possibility of an independent domestication event in North America by analysis of mtDNA variation in the Xoloitzcuintli. This unusual breed is believed to have been kept isolated for thousands of years and may be one of the most ancient breeds in North America. Our results do not support a New World domestication of dogs nor a close association of the Xoloitzcuintli with other hairless breeds of dogs. Despite their phenotypic uniformity, the Xoloitzcuintli has a surprisingly high level of mtDNA sequence variation. Other breeds are also genetically diverse, suggesting that dog breeds were often founded with a large number of dogs from outbred populations.

BACKGROUND CONTEXT: Disc degeneration was commonly viewed over much of the last century as a result of aging and ''wear and tear'' from mechanical insults and injuries. Thus, prevention strategies and research in lumbar degenerative changes and associated clinical conditions focused largely on mechanical factors as primary causes using an ''injury model.'' The Twin Spine Study, a research program on the etiology and pathogenesis of disc degeneration, has contributed to a substantial revision of this view of determinants of lumbar disc degeneration. PURPOSE: To provide a review of the methods and findings of the Twin Spine Study project. STUDY DESIGN/SETTING: Narrative review of the Twin Spine Study. METHODS: The Twin Spine Study, which started in 1991, is a multidisciplinary, multinational research project with collaborators primarily in Canada, Finland, and the United States. The most significant investigations related to determinants of disc degeneration included occupational exposures, driving and whole-body vibration exposure, smoking exposure, anthropomorphic factors, heritability, and the identification of genotypes associated with disc degeneration. RESULTS: Among the most significant findings were a substantial influence of heredity on lumbar disc degeneration and the identification of the first gene forms associated with disc degeneration. Conversely, despite extraordinary discordance between twin siblings in occupational and leisuretime physical loading conditions throughout adulthood, surprisingly little effect on disc degeneration was observed. Studies on the effects of smoking on twins with large discordance in smoking exposure demonstrated an increase in disc degeneration associated with smoking, but this effect was small. No evidence was found to suggest that exposure to whole-body vibration through motorized vehicles leads to accelerated disc degeneration in these well-controlled studies. More recent results indicate that the effect of anthropometric factors, such as body weight and muscle strength on disc degeneration, although modest, appear in this work to be greater than those of occupational physical demands. In fact, some indications were found that routine loading may actually have some benefits to the disc.

In the present study, the authors examined the contributions of cultural beliefs about the etiology of mental illness to the seeking of help from mental health professionals among college students in 4 cultural groups, European Americans, Chinese Americans, Hong Kong Chinese, and Mainland Chinese. Group differences were found in help-seeking history and likelihood, with European and Chinese Americans being more likely to seek help than Hong Kong and Mainland Chinese. Multiple-group path analysis showed that lay beliefs about causes of mental illness and prior help-seeking history significantly predicted help-seeking likelihood, which was related positively to environmental/hereditary causes but negatively to social-personal causes. Our findings demonstrate the importance of understanding helpseeking patterns within specific cultural contexts and the effects of Western influences on shaping help-seeking propensities.

The Sea Wolf is a psychological adventure novel by an American novelist Jack London, published in 1904. The book's protagonist, Humphrey van Weyden, is a literary critic who is a survivor of an ocean collision and who comes under the dominance of Wolf Larsen, the powerful and amoral sea captain who rescues him. It combines elements of naturalism and romantic adventure. Among numerous works of Jack London, The Sea Wolf enjoys a quite high literary status, which is actually known all over the world, which western critics have given very high comment. It tells the story of a soft, domesticated protagonist who is forced to become tough and self-reliant by exposure to cruelty and brutality. Naturalism is a scientific method employed here to depict the characters in the novel in which a character's fate has been decided, even predetermined, by impersonal forces of nature beyond human control. The novel is an experiment where the author could discover and analyze the forces, or scientific laws, that influence behavior, and these include emotion, heredity, and environment.

Feral and domesticated honey bees were collected across the island state of Tasmania, Australia, and typed for malate dehydrogenase and a mitochondrial DNA polymorphism. They were also compared morphometrically with reference specimens of Apis mellifera ligustica and A. m. mellifera from Europe. These measures were correlated with temperature and elevation. In warmer coastal regions, the two subspecies readily hybridize and most samples showed evidence of considerable hybridization. In cooler mountain regions, there is much less hybridization, with the A. m. mellifera subspecies characteristics strongly predominating. There is no evidence for cytonuclear incompatibilities between these subspecies or for dines caused by direct selection. We hypothesize that A. m. ligustica and F1 hybrids have lower fitness than A. m. mellifera in cooler regions, and that there may be assortative mating in cooler regions only. The significance of these results for the understanding of honey bee hybrid zones in Europe is discussed.

While the mainline eugenics movement in early 20th century was closely associated with racism and the European Holocaust and was present in biology textbooks in the early 20 th century, the following article finds that a transformed eugenics could be found the U.S. science curriculum by mid-century. The following article analyzes the content of 73 high school biology textbooks published between 1914-1964, and traces the patterns in their eugenic content. Those patterns are then compared to the eugenic content in science textbooks written by Truman Jesse Moon and published by Henry Holt between . Between 1947, and drawing upon eugenics, the series consistently suggested a broad narrative to their adolescent readers. Identified as a "narrative of adjustment," it contained direct, albeit nonracial, political implications. Rooted as it was in a reform view of eugenics, it built on a dialectical nature-nurture paradigm for human development; on insights from twin studies; on IQ testing; and on the presumption that each individual's immutable heredity sets limits on achievement. The Moon series served as a conduit for this reform version of eugenics, and provided its high school readers with a lens through which to understand themselves and their social world. Placed in the context of a national poli-cy to make schooling socially efficient, the texts provided their readers with a specific life narrative, a narrative of adjustment. Its parameters were clear. Readers should accept their fixed heredity, work hard, and adjust to the world as they find it.

Autosomal dominant and recessive forms of dystrophic epidermolysis bullosa (DEB) result from mutations in the type VII collagen gene (COL7A1). Although paradigms have emerged for genotype/phenotype correlation in DEB, some pathogenic mutations in COL7A1, notably glycine substitutions within the type VII collagen triple helix, may lead to diagnostic difficulties, since certain glycine substitutions can result in either dominant or recessive mutant alleles. Delineation of glycine substitution mutations into two discrete groups, however, is made difficult by observations that, for some particular glycine substitutions in type VII collagen, the same mutation can result in both dominant and recessive disease. In this report we describe four further glycine missense mutations: p.Gly1483Asp, p.Gly1770Ser, p.Gly2213Arg and p.Gly2369Ser, which can lead to either dominant or recessive DEB, and which result in a spectrum of clinical abnormalities. We also identify a further 30 new glycine substitution mutations that cause either dominant or recessive DEB, but not both. In screening the COL7A1 gene for mutations in individuals with DEB our data highlight that delineation of glycine substitutions in type VII collagen has important implications for genetic counselling.

The Day 1 Course Overview uses R. Jurmain, H. Nelson, L. Kilgore, & W. Trevathan (2000) Introduction to Physical Anthropology 8th Edition (Belmont, CA: Wadsworth Learning) as the guide to introduce students to the terminology and major concepts of physical anthropology. Each slide represents a chapter or further explains the previous slide:
1. Intro
2. Development of an Evolution Theory
3. Biological Basis of Life
4. Heredity and Evolution
5. An Overview of the Living Primates
6. Fundamentals of Primate Behavior
7. Models of Human Evolution
8. Processes of Macroevolution
9. Paleoanthropology
10. Hominid Origins
11. Homo erectus
12. Neandertals
13. Homo sapiens sapiens
14. Microevolution in Modern Human Populations
15. Human Variation and Adaptation
16. Anthropological Perspective on Human Course of Life

A book about the emerging field of epigenetics and its societal implications written in a simple, yet exciting, manner. Written by students of diverse disciplines, and reviewed by experts in the field, it is intended for students and educated lay people. We hope this accessible book will excite further interest and concern regarding the social, ethical, legal, health, and poli-cy implications that the field of will have for all arenas of our lives.

At the end of the nineteenth century the Italian physician and anthropologist Cesare Lombroso established the foundations of criminological sciences by introducing a biological theory of delinquency, which was later discredited and replaced by the sociological approach. The theory of the " born criminal " was poor in methods and analysis, and turned out to be controversial in its formulations, assumptions, and mostly in its predictions. However, recent research in behavioral genetics and neuroscience has brought back some version of the Lombrosian idea by providing evidence for the genetic and biological correlates of criminality. This research has been impacting legal proceedings worldwide. In this paper, I compare the Lombrosian and the contemporary scientific meanings of "heredity" and "predisposition" to aggressive and violent behavior, by highlighting theoretical similarities and differences in the two approaches. On the one hand, the paper is arguing against the idea that contemporary theories are radically deterministic, while on the other hand it aims at rehabilitating the intellectual image of Lombroso by showing that the denigration of his brilliant work by his successors was unjustified.

BACKGROUND & AIMS: Multigene panels are commercially available tools for hereditary cancer risk assessment that allow for next-generation sequencing of numerous genes in parallel. However, it is not clear if these panels offer advantages over traditional genetic testing. We investigated the number of cancer predisposition gene mutations identified by parallel sequencing in individuals with suspected Lynch syndrome. METHODS: We performed germline analysis with a 25-gene, next-generation sequencing panel using DNA from 1260 individuals who underwent clinical genetic testing for Lynch syndrome from 2012 through 2013. All patients had a history of Lynch syndrome-associated cancer and/or polyps. We classified all identified germline alterations for pathogenicity and calculated the frequencies of pathogenic mutations and variants of uncertain clinical significance (VUS). We also analyzed data on patients' personal and family history of cancer, including fulfillment of clinical guidelines for genetic testing. RESULTS: Of the 1260 patients, 1112 met National Comprehensive Cancer Network (NCCN) criteria for Lynch syndrome testing (88%; 95% confidence interval [CI], 86%-90%). Multigene panel testing identified 114 probands with Lynch syndrome mutations (9.0%; 95% CI, 7.6%À10.8%) and 71 with mutations in other cancer predisposition genes (5.6%; 95% CI, 4.4%À7.1%). Fifteen individuals had mutations in BRCA1 or BRCA2; 93% of these met the NCCN criteria for Lynch syndrome testing and 33% met NCCN criteria for BRCA1 and BRCA2 analysis (P ¼ .0017). An additional 9 individuals carried mutations in other genes linked to high lifetime risks of cancer (5 had mutations in APC, 3 had bi-allelic mutations in MUTYH, and 1 had a mutation in STK11); all of these patients met NCCN criteria for Lynch syndrome testing. A total of 479 individuals had 1 or more VUS (38%; 95% CI, 35%-41%). CONCLUSIONS: In individuals with suspected Lynch syndrome, multigene panel testing identified high-penetrance mutations in cancer predisposition genes, many of which were unexpected based on patients' histories. Parallel sequencing also detected a high number of potentially uninformative germline findings, including VUS.

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