Comorbid migraine with aura, anxiety, and depression is associated with dopamine D2 receptor (DRD2) NcoI alleles.

BACKGROUND: Unrelated individuals (n = 242) were interviewed directly for the presence of migraine, anxiety disorders, and major depression. MATERIALS AND METHODS: The data described in this study are derived from a clinical genetic relational database that was developed initially for the genetic analysis of migraine. Genotyping of the DRD2 NcoI C to T polymorphism located in exon 6 (His313His) was performed using previously described primers. RESULTS: A significantly increased incidence of migraine with aura (MWA), major depression, generalized anxiety disorder (GAD), panic attacks, and phobia was observed in individuals with the DRD2 NcoI C/C genotype compared with individuals with an DRD2 NcoI T allele. Specifically, 69% (91/131) of DRD2 NcoI C/C individuals in the present study met criteria for at least one of these neuropsychiatric disorders versus only 22% (4/18) of the DRD2 NcoI T/T individuals (Chi-square = 15.29; p < 0.00005). The DRD2 NcoI C allele frequency is significantly higher (Chi-square = 17.13; p < 0.00002) in individuals with MWA, anxiety disorders, and/or major depression (C allele frequency = 0.80) than in individuals who have none of these disorders (C allele frequency = 0.67). CONCLUSIONS: These data indicate that MWA, anxiety disorders, and major depression can be components of a distinct clinical syndrome associated with allelic variations within the DRD2 gene. Clinical recognition of this genetically based syndrome has significant diagnostic and therapeutic implications.     

Behavior and social structure of the sperm whales of Dominica,West Indies

There is substantial geographic variation in the behavior and social structure of sperm whales worldwide. The population in the Eastern Caribbean is thought to be isolated from other areas in the North Atlantic. We describe the behavior and social structure of the sperm whales identified off Dominica during an eight year study (2005–2012; 92% of photographic identifications) with supplementary data collected from seven other organizations dating as far back as 1981. A total of 419 individuals were identified. Resighting rates (42% of individuals between years) and encounter rates with sperm whale groups (mean = 80.4% of days at sea) among this population were both comparatively high. Group sizes were small (7–9 individuals) and were comprised of just one social unit (mean = 6.76 individuals, SD = 2.80). We described 17 units which have been reidentified off Dominica across 2–27 yr. Mature males are seen regularly off Dominica, but residency in the area lasts only a few days to a few weeks. Males were reidentified across years spanning up to a decade. Management of this population within the multinational Wider Caribbean Region will require governments to work towards international agreements governing sperm whales as a cross‐border species of concern.     

Benthos structure on tropical tidal flats of Australia

General features of benthos communities of tropical tidal flats are defined from northeast Australia, based on surveys from 1988 to 1991 in Hinchinbrook Channel and in the Haughton River estuary. A zonation of benthic communities is described. Total abundances for macrofauna averaged 31 individuals 200 cm⁻², mesofauna (defined as infauna smaller than 0.5 mm and retained on a 0.25 mm sieve) averaged 16 individuals 10 cm⁻² and meiofauna averaged 231 individuals 5 cm⁻². The two study sites were similar in their abundance structures, but species due to a higher diversity of polychaeta in the Channel (120 species, H′=3.80 vs. 29 species and H′=1.78 in the Haughton estuary). Species densities were comparable at both sites and rather low (6 species 177 cm⁻², 2–7 species 10 cm⁻² and 5 meiobenthic Plathelminth species 5 cm⁻²). Over 50% of the species encountered were represented by less than three individuals. Deposit feeders, dominated the assemblages both in terms of individuals as well as species numbers. Tropical tidal flats are compared with their temperate counterparts and approaches for future research in tropical benthos communities are recommended.     

Plathelminths in tropical intertidal sediments of northeastern Australia

Assemblages of free-living interstitial plathelminths are described from the tropical coast of northeastern Australia. About one hundred species were recorded from sediments of mangroves, tidal flats, and seagrass beds. The majority (88%) of the plathelminths occurred in only one havitat. Richest in species were Kalyptorhynchia (39), followed by Acoela (17) and Typhloplanoida (16). Over 50% of the species found were represented by one to three individuals, but a few species were frequently encountered. The preferred habitat was sand with 86% of all species, while abundances were higher in muddy sediments. The mean species density was 7 in 10 cm^–2 of sediment, and abundances ranged from 8 to 52 individuals 10 cm^–2 with an average plathelminth abundance of 25 individuals 10 cm^–2. Predatory plathelminths were predominant with up to 77% of the individuals. A comparison is made to plathelminth assemblages in temperate tidal flats.     

A new transferrin variant from Iran (Tf B-Iran): review of 36 variant alleles

A total of 2581 serum samples collected from five population groups of Iran was studied for electrophoretic variations of the transferrin (Tf). Besides the common phenotype Tf C the authors could observe 41 individuals with rare Tf types: CB1, CB2, CD1, CDChi, CD2. In addition to these Tf types two individuals with a new Tf B variant were observed. This new variant was found in the Dezfooli sample and was designated as Tf B-Iran. The electrophoretic position of this variant is described, and all the hitherto known Tf variants are reviewed.     

Basal rate of metabolism and temperature regulation in Goeldi's monkey (Callimico goeldii)

Basal rate of metabolism (BMR) and temperature regulation are described for Goeldi's monkey (Callimico goeldii), a threatened New World primate species of the family Callitrichidae. Measurements were conducted on sleeping individuals during the night, using a special nestbox designed to serve as a respirometry chamber, such that test animals remained undisturbed in their customary surroundings. Oxygen consumption was measured at ambient temperatures between 17.5 and 32 degrees C for 10 individuals with an average body mass of 557 g. Average BMR was 278+/-41 ml O(2) h(-1), which is lower than the value predicted on the basis of body mass. Individual differences in BMR were significant even when body mass was accounted for. Body temperature was measured in five individuals below thermoneutrality and averaged 36+/-0.3 degrees C. The corresponding thermal conductance averaged 29.3+/-2.2 ml O(2) h(-1) degrees C(-1), which is similar to the expected value. The metabolic and thermoregulatory patterns observed in C. goeldii resemble those of the closely related marmosets and tamarins. Low BMR is presumably associated with limited access to energy resources and may be directly linked with phylogenetic dwarfing in the family Callitrichidae.     

Identification of two invasive Cacopsylla chinensis (Hemiptera: Psyllidae) lineages based on two mitochondrial sequences and restriction fragment length polymorphism of cytochrome oxidase I amplicon

The occurrence of pear decline, a disease found in some pear (Pyrus spp.) orchards of Taiwan in recent years, is accompanied by an outbreak of Cacopsylla chinensis (Yang & Li). Two major morphological forms (summer and winter forms) with a variety of intermediate body color and two phylogenetic lineages of this psyllid have been described. The work herein used sequences of mitochondrial cytochrome oxidase I (COI) and 16S rDNA regions to delineate the genetic differentiation of this color-variable insect and to elucidate their relationship. Sequence divergence and phylogenetic analysis have shown that C. chinensis individuals could be divided into two lineages with 3.3 and 2.3% divergence of COI and 16S rDNA, respectively. All specimens from China were found to belong to lineage I. Restriction fragment length polymorphism analysis of COI with restriction enzymes AcuI, AseI, BccI, and FokI on 263 specimens of six populations from Taiwan produced two digestion patterns, which are in agreement with the two lineages described above. Both patterns could be found in each population, with most individuals belonging to lineage I and 5-21% of the individuals belonging to lineage II. Because these two lineages included summer as well as winter morphological forms, the lineage differentiation is apparently not related to morphological characters of this psyllid. Because the invasive records are not in favor of a sympatric differentiation, this psyllid is more likely introduced as different populations from countries in temperate regions.     

Karyological analysis of Proechimys cuvieri and Proechimys guyannensis (Rodentia, Echimyidae) from central Amazon

The aim was to characterize the karyotype of rodents of the genus Proechimys from three localities in the central Brazilian Amazon, in the search for new markers that might shed light on our understanding of the taxonomy and evolutionary history of this taxon. Two karyotypes were found, viz., 2n = 28, FN = 46 in individuals from the NRSP (Cuieiras River) and REMAN (Manaus), and 2n = 46, FN = 50 in individuals from the Balbina Hydroelectric Plant. While individuals with the karyotype with 2n = 28 chromosomes were morphologically associated with Proechimys cuvieri, their karyotype shared similarities with those of the same diploid number in two other regions. Although three karyotypes are described for Proechimys cuvieri, no geographic distribution pattern that defined a cline could be identified. Based on the morphological examination of voucher specimens and additional results from molecular analysis, the karyotype with 2n = 46 and FN = 50 could be associated with P. guyannensis.     

一种新的分子遗传相似度计算方法

指出了Nei氏遗传相似度仅仅是用来描述两个二进制变量差异相似程度程度的一种距离系数或相似系数,与个体间亲缘程度没有必然联系。根据亲缘系数的定义,提出新的遗传相传相似计算公式即rA(x,y)=2N^2xy/NxNy或rA(x,y)=N^2/NxNy。并通过实例验证了该公式可用于判断个体间亲缘程度方面。     

大型溞生长、生殖和种群增长的研究

年龄6±6小时的纯系大型溞培养在25±1℃静置换水条件下,饲以斜生栅藻,其平均寿命为68.40±9.82天。龄期(x)和年龄(t,天)之间呈曲线迴归关系:t=-2.245+1.510x+0.035x2(r=0.99,p3.86-0.131t)(式中Y为累计生殖量个数,t为天数)。       

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

Epidermodysplasia verruciformis (EV) is characterized by persistent cutaneous lesions caused by a specific group of related human papillomavirus genotypes (EV-HPVs) in otherwise healthy individuals. Autosomal recessive (AR) EVER1 and EVER2 deficiencies account for two thirds of known cases of EV. AR RHOH deficiency has recently been described in two siblings with EV-HPV infections as well as other infectious and tumoral manifestations. We report here the whole-exome based discovery of AR MST1 deficiency in a 19-year-old patient with a T-cell deficiency associated with EV-HPV, bacterial and fungal infections. MST1 deficiency has recently been described in seven patients from three unrelated kindreds with profound T-cell deficiency and various viral and bacterial infections. The patient was also homozygous for a rare ERCC3 variation. Our findings broaden the clinical range of infections seen in MST1 deficiency and provide a new genetic etiology of susceptibility to EV-HPV infections. Together with the recent discovery of RHOH deficiency, they suggest that T cells are involved in the control of EV-HPVs, at least in some individuals.     

Inbreeding effects on lifetime in David's deer (Elaphurus davidianus,Milne Edwards 1866) population

The current population of David's deer is derived from 18 individuals kept in Woburn Abbey Park (England). The aim of this study is to evaluate the inbreeding rate as well as inbreeding depression in longevity. The recorded data have been extracted from the International Species Information System (ISIS). Complete records of 2042 individuals (born in 1947-2000) from zoological gardens were studied. The following four subsets of data were formed: all individuals, individuals over 31 days of life, sexually mature individuals (above 450 days old) and individuals with identified sex. Two models (including inbreeding coefficient as linear and quadratic covariables, respectively) have been employed. These computations were performed by the use of the DFREML package programs. This study has shown that average levels of inbreeding in the David's deer are relatively low (no exceed 0.028). The highest level of inbreeding was registered for mature individuals. In general, the average inbreeding on length of life was small for the above mentioned the inbreeding level (from 24 days to 77 days). However, on the basis estimated regression coefficients it can be suggested that an increase of inbreeding could lead to a drastic reduction of longevity. Relationships between inbreeding level and longevity are usually better described by quadratic partial regression (except for the oldest individuals). On the other hand, from a statistical point of view, a relatively low inbreeding level of the population studied is not suitable to derive the slope of the dependencies.     

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in these genes, suggesting that there are undiscovered mutations in other genes for HHT and possibly vascular disorders with overlapping phenotypes. The genetic etiology for 191 unrelated individuals clinically suspected to have HHT was investigated with the use of exome and Sanger sequencing; these individuals had no mutations in ENG, ACVRL1, and SMAD4. Mutations in BMP9 (also known as GDF2) were identified in three unrelated probands. These three individuals had epistaxis and dermal lesions that were described as telangiectases but whose location and appearance resembled lesions described in some individuals with RASA1-related disorders (capillary malformation-arteriovenous malformation syndrome). Analyses of the variant proteins suggested that mutations negatively affect protein processing and/or function, and a bmp9-deficient zebrafish model demonstrated that BMP9 is involved in angiogenesis. These data confirm a genetic cause of a vascular-anomaly syndrome that has phenotypic overlap with HHT.     

Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria

The DNA of 21 patients from 19 unrelated families with erythropoietic protoporphyria (EPP) were screened for the 6 ferrochelatase point mutations so far described. The mutation previously described by us (A ? t transversion at position ?3 of the donor site of intron 10, causing exon 10 skipping) was detected in two additional unrelated EPP patients: in these patients, cDNA lacking exon 10 was also detected. The mutation described by Nakahashi et al. as responsible for exon 2 skipping (C ? T transition at position ?23 of the acceptor site of intron 1), although also observed in some normal individuals, was invariably observed in all EPP patients tested and may thus play some role in the pathognesis of EPP. Thus, it does not appear that this mutation is the primary mechanism underlying exon 2 skipping. None of the other four previously described mutations were detected. These data demonstrate the heterogeneity of the ferrochelatase locus and of the genetic defect in EPP.     

Dispersions-, Abundanz- und Dominanzdaten von koexistierenden Hydroporus-Imagines (Coleoptera; Dytiscidae) aus sekundären Moorgewässern

The population dynamic of coexisting Hydroporus-species (adults) living in 2 secondary bog pools is described. Both pools are charakterized by a typical community structure, persisting over a period of 4 years. They also differ in physical and chemical properties. None of the 5 coexisting populations in a shaded pool is dispersed equally. Most individuals were kept in an area of 0–20 cm water depth. On an average 42–100 individuals/m² were recorded from a pool lying in a secondary birch swamp (Betuletum pubescentis).     

Variability of the immunoglobulin heavy chain constant region locus: a population study

The Immunoglobulin Heavy chain Constant region (IGHC) locus is a multigene family composed of highly homologous segments often involved in unequal crossings over that lead to deleted and duplicated haplotypes. The frequencies of these haplotypes in 558 individuals from Lombardy, Veneto, Puglia and Sardinia were determined by Pulsed Field Gel Electrophoresis (PFGE), followed by Southern blotting with four IGHC probes, and compared with those observed in 110 subjects from Piedmont. Twenty deletions and 60 duplications were characterized, all in heterozygous individuals except for 2 homozygous deletions. The differences in frequency between the five populations were not significant. The deletions/duplications involved one or more genes: GP-A2, A1-E and G4 duplications, and A1-E and GP-A2 deletions were the most common. Four new duplications are described: three, involving the genes from GP to A2, from G2 to G4, and G4, are counterparts of known deletions. The fourth duplication spans from GP to G2. A G1 deleted heterozygous individual never previously described in Italy is reported. All the rearranged haplotypes seem to be the result of unequal crossing over. The difference between the number of duplications and deletions was significant in Sardinia, Lombardy, Puglia and in the total of 668 subjects (P < 0.001). This may be due to selection or genetic drift.     

The demonstration of asymmetric hemoglobin hybrids by polyacrylamide electrophoresis.

A simpler, more economical technique than previously reported, that of conventional polyacrylamide gel electrophoresis alone, is described for the detection of asymmetric hemoglobin hybrids of the forms alphaXalphaYbeta2 and alpha2betaXbetaY when bloods from individuals with alpha and beta chain variants were examined. The presence of alpha chain variant hybrids, never before reported, is further evidence that hybrid formation is a more widespread phenomenon than has previously been thought of. Hybrids were found in artificial mixtures of hemoglobins and more importantly, are also reported here for the first time in bloods of individuals heterozygous for hemoglobin variants. These hybrid tetramers were as stable as the parent hemoglobins when examined under anaerobic conditions. The involvement of HbF in the formation of hybrids of the type alpha2betagamma is reported, and an analysis of the possible role of these as well as alpha2betaAbetaS hybrids in the sickling process is presented.     

Analysis of Human Mitochondrial DNA Polymorphisms in the Japanese Population

The highly polymorphic nature and high amplification efficiency of mitochondrial DNA (mtDNA) is valuable for the analysis of biological evidence in forensic casework, such as the identification of individuals and assignment of race/ethnicity. To be useful, a mtDNA polymorphism database for the Japanese population requires an understanding of the range of haplotype variation and phylogenies of mtDNA sequences. To extend current knowledge on the haplotypes in the Japanese population, this study defines new lineages and provides more detail about some of those previously described. We compared the hypervariable regions (HVRs) of 270 healthy, unrelated Japanese individuals and demonstrated 192 haplotypes. Combining HVR1 and HVR2, the genetic diversity was 0.9935, thus providing a high level of identification capability. Haplogroup status was defined for 160 individuals using HVR1, HVR2, and particular coding region polymorphisms; these individuals belonged to 94 haplotypes, four of which were new lineages. The complete mtDNA sequence was also determined from seven individuals.