Polychaete zonation and its relation to algal distribution down a vertical cliff in the western Mediterranean (Italy): a structural analysis

The zonation of polychaetes down a vertical cliff (0–5 m in depth) at Cape Romito, Leghorn, Italy, was investigated. The structural organization of the community changed with depth. A community typical of photophilic environments was found in the superficial zone (0–2 m), while in the deeper zone (3–5 m), a more diversified community characterized by species typical of sciaphilic environments was present. At the surface (0 m) the community was very poor in species and individuals and thus probably corresponds to the midlittoral fringe. In fact, some species typical of the midlittoral zone were found. This distribution pattern was constant for samples taken in February and August 1985. The distribution of polychaetes was closely related to that found for macroalgae. It is hypothesized that algae condition the substratum and that this is the main factor responsible for the zonation of polychaetes.     

The ‘Island Rule’ Acting on Anuran Populations (Bufonidae: Rhinella ornata) of the Southern Hemisphere

Darwin and Wallace, in the mid‐nineteenth century, were the first to document examples of natural selection acting on island dwellers. A century later a pattern of morphological differences among organisms on islands was coined the ‘island rule’, which states that on islands species with small individuals tend toward gigantism and large individuals tend toward dwarfism. Selective pressures such as limited resources and increased intraspecific competition modulate the size of organisms in these environments. Of the several works that have tested vertebrates for adherence to the island rule only two have addressed amphibians. This work is the third record of body size variation of island amphibian populations, and the first for the Southern Hemisphere. The islands investigated were once continuous with mainland, and now are isolated as a result of sea level fluctuations that took place in the Pleistocene and Holocene. This study compared morphometric variation in populations of Rhinella ornata (Bufonidae) occurring on three islands of the Costa Verde to populations on five continental areas in Rio de Janeiro, Brazil. We measured 18 morphometric variables of 177 individuals. There was a shift toward smaller body size (dwarfism) in two of the three island populations studied. We attribute this general pattern to geographic factors, verifying the expression of the island rule in tropical frogs populations (insular dwarfism) operating inversely in relation to those of temperate environments (island gigantism).     

Dinosaurs of Romania

The dinosaurs of Romania are exclusively Cretaceous. Lowermost Cretaceous dinosaurs come from a bauxite mine in the Bihor county (northwest Romania) that has yielded thousands of disarticulated bones. Uppermost Cretaceous dinosaurs have been known from the Haţeg Basin (south Transylvania) since the end of the 19th century, mostly as bone concentrations (‘fossiliferous pockets’); more recently, nests with dinosaur eggs, including hatchlings, have been found in Haţeg. Although separated by a ca 60 Myr gap, the two dinosaur faunas from Romania share some common features: predominance of ornithopods, absence of large theropods (substituted in the case of the Maastrichtian Haţeg assemblage by several small theropods), and, in general, the small size of the individuals (dwarfism). These aspects seem to be explained by the isolated island habitat of both assemblages. To cite this article: D. Grigorescu, C. R. Palevol 2 (2003) 97–101.     

Small scattered fragments do not a dwarf make: biological and archaeological data indicate that prehistoric inhabitants of Palau were normal sized

Current archaeological evidence from Palau in western Micronesia indicates that the archipelago was settled around 3000–3300 BP by normal sized populations; contrary to recent claims, they did not succumb to insular dwarfism.

Background

Previous and ongoing archaeological research of both human burial and occupation sites throughout the Palauan archipelago during the last 50 years has produced a robust data set to test hypotheses regarding initial colonization and subsequent adaptations over the past three millennia.

Principal Findings

Close examination of human burials at the early (ca. 3000 BP) and stratified site of Chelechol ra Orrak indicates that these were normal sized individuals. This is contrary to the recent claim of contemporaneous “small-bodied” individuals found at two cave sites by Berger et al. (2008). As we argue, their analyses are flawed on a number of different analytical levels. First, their sample size is too small and fragmentary to adequately address the variation inherent in modern humans within and outside of Palau. Second, the size and stature of all other prehistoric (both older and contemporaneous) skeletal assemblages found in Palau fall within the normal parameters of modern human variation in the region, indicating this was not a case of insular dwarfism or a separate migratory group. Third, measurements taken on several skeletal elements by Berger et al. may appear to be from smaller-bodied individuals, but the sizes of these people compares well with samples from Chelechol ra Orrak. Last, archaeological, linguistic, and historical evidence demonstrates a great deal of cultural continuity in Palau through time as expected if the same population was inhabiting the archipelago.

Conclusions

Prehistoric Palauan populations were normal sized and exhibit traits that fall within the normal variation for Homo sapiens—they do not support the claims by Berger et al. (2008) that there were smaller-bodied populations living in Palau or that insular dwarfism took place such as may be the case for Homo floresiensis.     

Are the small human-like fossils found on Flores human endemic cretins?

Fossils from Liang Bua (LB) on Flores, Indonesia, including a nearly complete skeleton (LB1) dated to 18kyr BP, were assigned to a new species, Homo floresiensis. We hypothesize that these individuals are myxoedematous endemic (ME) cretins, part of an inland population of (mostly unaffected) Homo sapiens. ME cretins are born without a functioning thyroid; their congenital hypothyroidism leads to severe dwarfism and reduced brain size, but less severe mental retardation and motor disability than neurological endemic cretins. We show that the fossils display many signs of congenital hypothyroidism, including enlarged pituitary fossa, and that distinctive primitive features of LB1 such as the double rooted lower premolar and the primitive wrist morphology are consistent with the hypothesis. We find that the null hypothesis (that LB1 is not a cretin) is rejected by the pituitary fossa size of LB1, and by multivariate analyses of cranial measures. We show that critical environmental factors were potentially present on Flores, how remains of cretins but not of unaffected individuals could be preserved in caves, and that extant oral traditions may provide a record of cretinism.     

Can paleopathology provide evidence for “compassion”?

Paleopathological analyses of skeletal remains have provided significant information about diet and health in prehistoric populations. A number of individuals have been recovered whose remains show evidence of impairments that would have precluded "normal" functioning, resulting in a disability. The most famous example is Shanidar I; more recent discoveries include the Romito 2 dwarf from Italy and a boy with spina bifida from the Windover site in Florida. These finds have been interpreted by some writers as evidence for compassion and "moral decency" among the other members of the community, who would have had to support these nonproductive individuals. However, these interpretations are based on a number of implicit assumptions: about the number of nonproductive members normally present in any population, about the abilities of disabled individuals to contribute to society, about the treatment of disabled individuals by other members of the group, and about the "moral rightness" of facilitating the survival of a disabled individual under all circumstances. These assumptions are not justified by the evidence from the archeological record or by reference to ethnographic analogy. A tendency to focus on physical traits as the sole measure of productive ability, images of Rousseau's "noble savage" transported to the past, and unexamined beliefs about the disabled in modern societies have influenced these archeological interpretations. We are not justified in drawing conclusions either about the quality of life for disabled individuals in the past or about the motives or attitudes of the rest of the community from skeletal evidence of physical impairment.     

Genetic disorders in beef cattle: a review

The main purpose of present review is to describe and organize autosomal recessive disorders (arachnomelia, syndactylism, osteopetrosis, dwarfism, crooked tail syndrome, muscular hyperplasia, glycogen storage disease, protoporphyria), which occur among beef cattle, and methods that can be applied to detect these defects. Prevalence of adverse alleles in beef breeds happens due to human activity—selections of favorable features, e.g. developed muscle tissue. Unfortunately, carriers of autosomal recessive diseases are often characterized by these attributes. Fast and effective identification of individuals, that may carry faulty genes, can prevent economical losses.     

Release of the repressive activity of rice DELLA protein SLR1 by gibberellin does not require SLR1 degradation in the gid2 mutant

The rice (Oryza sativa) DELLA protein SLR1 acts as a repressor of gibberellin (GA) signaling. GA perception by GID1 causes SLR1 protein degradation involving the F-box protein GID2; this triggers GA-associated responses such as shoot elongation and seed germination. In GA-insensitive and GA biosynthesis mutants, SLENDER RICE1 (SLR1) accumulates to high levels, and the severity of dwarfism is usually correlated with the level of SLR1 accumulation. An exception is the GA-insensitive F-box mutant gid2, which shows milder dwarfism than mutants such as gid1 and cps even though it accumulates higher levels of SLR1. The level of SLR1 protein in gid2 was decreased by loss of GID1 function or treatment with a GA biosynthesis inhibitor, and dwarfism was enhanced. Conversely, overproduction of GID1 or treatment with GA(3) increased the SLR1 level in gid2 and reduced dwarfism. These results indicate that derepression of SLR1 repressive activity can be accomplished by GA and GID1 alone and does not require F-box (GID2) function. Evidence for GA signaling without GID2 was also provided by the expression behavior of GA-regulated genes such as GA-20oxidase1, GID1, and SLR1 in the gid2 mutant. Based on these observations, we propose a model for the release of GA suppression that does not require DELLA protein degradation.     

Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome

AIMS: To obtain an understanding of the etiology of proportional dwarfism and endocrinopathies of Bloom's syndrome BS. METHODS: Admission for 5-day periods to an NIH-supported Clinical Research Center of a randomly selected population of persons with BS (n = 11; mean age 11.5 years, range 9 months to 28.5 years) for clinical and genetic history-taking, physical examination, and endocrinological, gastroenterological and immunological testing. RESULTS: An oral glucose tolerance test was performed in all participants. Impaired glucose tolerance was present in 4 individuals, insulin resistance was observed in 6 individuals, and previously unrecognized diabetes was found in 1. Growth hormone provocation was normal in the 10 individuals tested. Overnight frequent GH sampling was suggestive of neurosecretory dysfunction in 3. Compensated hypothyroidism was found in 2 participants. Lipid profile abnormalities were present in 5 of 10 individuals. Low immunoglobulin concentrations (IgG and/or IgM) were seen in all tested. Intestinal absorption by D-xylose and/or fecal fat measurement was normal in all individuals tested as well. CONCLUSION: Altered carbohydrate metabolism is very common in BS, and is present from childhood. BS dwarfism is not related to growth hormone deficiency or malabsorption. The basis for the growth restriction in BS remains to be elucidated.     

Human DNA damage response and repair deficiency syndromes: Linking genomic instability and cell cycle checkpoint proficiency

A plethora of clinically distinct human disorders exist whose underlying cause is a defect in the response to or repair of DNA damage. The clinical spectrum of these conditions provides evidence for the role of the DNA damage response (DDR) in mediating diverse processes such as genomic stability, immune system function and normal human development. Cell lines from these disorders provide a valuable resource to help dissect the consequences of compromised DDR at the molecular level. Here we will discuss some well known, less well known and ‘novel’ DDR defective disorders with particular reference to the functional interplay between the DNA damage response and cell cycle checkpoints. We will describe recent advances in further delineating the genetic basis of Seckel syndrome and microcephalic osteodysplastic primordial dwarfism type II, which have shed more light on the interplay between the DDR, cycle progression and centrosomes. We will also overview recent developments concerning haploinsufficiency of DDR components and their association with certain genomic disorders such as Miller–Dieker lissencephaly syndrome and Williams–Beuren syndrome. Finally, we will discuss how defects in the DDR result in some unexpected clinical features before describing how the nature of a DDR defect impacts on the management and treatment of individuals with these conditions.     

Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle

During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle.     

床板珊瑚形珊瑚自动鉴定方法

根据床板珊瑚形珊瑚的系统分类特点，自动鉴定程序从高级分类单位开始，逐步向较低级别进行，直至将标本鉴定到种。在仔细分析研究属以上级别分类单位鉴定特征性质的基础上，首次提出了归属度的概念，通过归属度计算判定被鉴定标本的归属；在对每一属的各个种进行数值分类的基础上，利用相似性系数对被鉴定标本进行统计识别，将标本鉴定到种。     

The leukemia-associated Rho guanine nucleotide exchange factor LARG is required for efficient replication stress signaling

We previously identified and characterized TELO2 as a human protein that facilitates efficient DNA damage response (DDR) signaling. A subsequent yeast 2-hybrid screen identified LARG; Leukemia-Associated Rho Guanine Nucleotide Exchange Factor (also known as Arhgef12), as a potential novel TELO2 interactor. LARG was previously shown to interact with Pericentrin (PCNT), which, like TELO2, is required for efficient replication stress signaling. Here we confirm interactions between LARG, TELO2 and PCNT and show that a sub-set of LARG co-localizes with PCNT at the centrosome. LARG-deficient cells exhibit replication stress signaling defects as evidenced by; supernumerary centrosomes, reduced replication stress-induced γH2AX and RPA nuclear foci formation, and reduced activation of the replication stress signaling effector kinase Chk1 in response to hydroxyurea. As such, LARG-deficient cells are sensitive to replication stress-inducing agents such as hydroxyurea and mitomycin C. Conversely we also show that depletion of TELO2 and the replication stress signaling kinase ATR leads to RhoA signaling defects. These data therefore reveal a level of crosstalk between the RhoA and DDR signaling pathways. Given that mutations in both ATR and PCNT can give rise to the related primordial dwarfism disorders of Seckel Syndrome and Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) respectively, which both exhibit defects in ATR-dependent checkpoint signaling, these data also raise the possibility that mutations in LARG or disruption to RhoA signaling may be contributory factors to the etiology of a sub-set of primordial dwarfism disorders.     

Convergence in reduced body size,head size,and blood glucose in three island reptiles

Many oceanic islands harbor diverse species that differ markedly from their mainland relatives with respect to morphology, behavior, and physiology. A particularly common morphological change exhibited by a wide range of species on islands worldwide involves either a reduction in body size, termed island dwarfism, or an increase in body size, termed island gigantism. While numerous instances of dwarfism and gigantism have been well documented, documentation of other morphological changes on islands remains limited. Furthermore, we lack a basic understanding of the physiological mechanisms that underlie these changes, and whether they are convergent. A major hypothesis for the repeated evolution of dwarfism posits selection for smaller, more efficient body sizes in the context of low resource availability. Under this hypothesis, we would expect the physiological mechanisms known to be downregulated in model organisms exhibiting small body sizes due to dietary restriction or artificial selection would also be downregulated in wild species exhibiting dwarfism on islands. We measured body size, relative head size, and circulating blood glucose in three species of reptiles—two snakes and one lizard—in the California Channel Islands relative to mainland populations. Collating data from 6 years of study, we found that relative to mainland population the island populations had smaller body size (i.e., island dwarfism), smaller head sizes relative to body size, and lower levels of blood glucose, although with some variation by sex and year. These findings suggest that the island populations of these three species have independently evolved convergent physiological changes (lower glucose set point) corresponding to convergent changes in morphology that are consistent with a scenario of reduced resource availability and/or changes in prey size on the islands. This provides a powerful system to further investigate ecological, physiological, and genetic variables to elucidate the mechanisms underlying convergent changes in life history on islands.     

Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2-MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34,429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P(2df)=4.54 × 10(-5), P(rec)=7.74 × 10(-6)), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results.     

Potential habitat dependence in deposition rate of presumptive annual lines in shells of the bivalve Protothaca staminea

Although repeating depositional features in shells of bivalve molluscs continue to be used in ecology and paleoecology to age individual specimens and thereby provide a potentially powerful tool for geochronological reconstruction of past events, few studies actually test the basic assumptions of growth line analysis: (1) that line deposition is truly periodic and (2) that the length of the period is one year. Recapture of marked individuals of the bivalve Protothaca staminea after 12 or 24 months in field plots in two habitats of Mugu Lagoon (California, U.S.A.) suggests a habitat-specific pattern of deposition of the major growth lines previously assumed to be annual. External (surface) and internal (cross-sectional) growth lines were in excellent agreement on any given specimen and showed that each specimen from a muddy-sand environment deposited a single annual line over 12 months, whereas all but one specimen from a clean-sand environment deposited several more major growth lines than predicted from the numbers of years of additional growth. Although more frequent handling or natural disturbance in the higher-energy, clean-sand habitat may explain these differences, the results demand caution in extrapolating tests of annual periodicity in growth line deposition across species or even across habitats for a single species.     

A COL11A2 Mutation in Labrador Retrievers with Mild Disproportionate Dwarfism

We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA) and collagen alpha-2(XI) chain gene (COL11A2), respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.     

Milk molars or extra premolars in Mesotheriinae (Mesotheriidae,Notoungulata): New insights into an old controversy

A recently recovered specimen of Mesotheriinae (Mesotheriidae, Notoungulata) from the late Miocene-early Pliocene of La Rioja Province (Argentina), CRILAR Pv 433, corresponds to an individual with three upper premolars, which appears to be an “anomaly” among mesotheriines. The detailed study of this specimen, however, brings up an old controversy on the interpretation of different mesotheriine specimens with three upper or two lower premolars. After being described as different taxa, these were later considered to be juvenile representatives of other known species. The three upper or two lower teeth were interpreted as the milk molars DP2–4 and dp3–4, respectively, which would be replaced in adult life by two upper (P3–4) and one lower (p4) permanent premolars. The new material leads us to set up a different interpretation. In our opinion, all these specimens actually preserve the permanent dentition, corresponding to different ontogenetic stages of more or less young individuals. This consideration implies the necessity of a deep systematic revision of the whole subfamily, keeping in mind this new point of view and the ontogenetic variation within a species. Therefore, the presence of P2/p3 is not enough to define a different taxon at this moment. Pending this taxonomic revision, the dental morphology of CRILAR Pv 433 resembles both Typotheriopsis (e.g., upper premolars with one labial sulcus) and Pseudotypotherium (e.g., P4 with lingual groove, wide median lobe of M3) as these two late Miocene genera are currently characterized. Furthermore, P2/p3 could be expelled soon in the lifetime of individuals, and even the presence of P2/p3 could be a variable character within the same taxon; if so, this might reflect an evolutionary trend to the loss of a dental element within mesotheriines, but the revision of a large sample is necessary to support or reject these hypotheses.     

An Arabidopsis brassinosteroid-dependent mutant is blocked in cell elongation.

Cell elongation is a developmental process that is regulated by light and phytohormones and is of critical importance for plant growth. Mutants defective in their response to light and various hormones are often dwarfs. The dwarfed phenotype results because of a failure in normal cell elongation. Little is known, however, about the basis of dwarfism as a common element in these diverse signaling pathways and the nature of the cellular functions responsible for cell elongation. Here, we describe an Arabidopsis mutant, dwarf4 (dwf4), whose phenotype can be rescued with exogenously supplied brassinolide. dwf4 mutants display features of light-regulatory mutants, but the dwarfed phenotype is entirely and specifically brassinosteroid dependent; no other hormone can rescue dwf4 to a wild-type phenotype. Therefore, an intact brassinosteroid system is an absolute requirement for cell elongation.