Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster

Epidermolytic hyperkeratosis (EHK) is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. In this study, we tested the hypothesis that the EHK phenotype is linked to one of the suprabasilar keratins (KRT10 or KRT1) present in the types I and II keratin gene clusters in chromosomes 17q and 12q, respectively. For this purpose, Southern hybridizations were performed with DNA from a large kindred with EHK, consisting of 11 affected individuals in three generations. Segregation analysis with markers flanking the keratin gene clusters demonstrated linkage (Z = 3.61 at theta = 0) to a locus on 12q, while markers on 17q were excluded. These data implicate KRT1, the type II keratin expressed in suprabasilar keratinocytes, as a candidate gene in this family with EHK.     

Male preferences for unmated versus mated females in two species of voles (Micotus ochrogaster and M. montanus).

Examined male preference for unmated vs mated females in 2 species of voles, using 73 prairie voles and 78 montane voles in 2 testing situations each. In Exp I, conducted in a tether test situation, prairie voles spent significantly more time and copulated more with unmated than with mated females. In Exp II, male prairie voles spent significantly more time visiting and investigating anesthetized unmated females than anesthetized mated females. In Exp III, male montane voles showed no significant visitation or copulatory preference for unmated vs mated females in the tether situation. In Exp IV, male montane voles spent more time with unmated, anesthetized females than mated females but displayed no other significant differences. In general, male prairie voles appeared more discriminating in their mate choice than male montane voles. These differences are consistent with differences in male parental effort in the field. (29 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Consumption of drugs in diabetes mellitus II. Utilization and loss of insulin: epidemiologic and socioeconomic implications. Study Group for Diabetes in Tarragona (GEDT)

BACKGROUND: With the aim of evaluating the real consumption on insulin an analysis of its loss with use in clinical practice was carried out. The influence of this loss was investigated in the calculations of prevalence of diabetes (DM) initiating from the consumption of medication, the presumable repercussion in public health costs and possible alternatives. METHODS: Revision and analysis of the recipients used by a group of 58 insulin treated diabetics was carried out during a mean period of one month. The theoretic consumption, real consumption and the mean loss per each injection according to visual accuracy and the system employed were evaluated. A deduction was made of the autonomy by storing of insulin. A previous calculation concerning the prevalence of DM in Tarragona (548,900 inhabitants) according to consumption was corrected and an economic estimation of the loss demonstrated over public health costs of insulin during 1991 was made. RESULTS: The mean dose prescribed was 39.7 IU/day supplied in 2.4 injections/patient/day. At 30 days (27-35) 310 recipients were evaluated (115 vials/195 boxes). The mean real dose consumed was 53.3 IU/day and the mean loss per injection was 5.6 (25.5% of all the insulin supplied, 4.5% as remnants at the bottom of the recipient). A greater loss was observed by injection a) in patients with reduced sight (6.4 +/- 7.3 IU/5.5 +/- 4.5; NS) and b) in the users of syringes with dead space (5.8 +/- 4.7) with respect to those using an injector insulin pen (4.4 +/- 2.9; p < 0.01). The autonomy by domiciliary storage of insulin was of 103.7 days/patient (prescribed doses) and 78.6 (real consumption). A total of 7 diabetics (12%) had unused expired recipients. The prevalence of insulin treated DM in Tarragona was estimated as around 4.3-4.8/1,000 (2,360-2,635 inhabitants). The expense of loss was 36 million pesetas/year; 6.4 as depreciated remnants of insulin in the bottom of recipients. CONCLUSIONS: There is a great loss of insulin in clinical practice which may be avoidable and which influences the public health costs for diabetes. An adequate educative strategy and system of injection independent of user ability would reduce the costs.     

Variation in the anthropomorphization of supernatural beings and its implications for cognitive theories of religion.

The cognitive study of religion has been highly influenced by P. Boyer's (2001, 2003) claim that supernatural beings are conceptualized as persons with counterintuitive properties. The present study tests the generality of this claim by exploring how different supernatural beings are conceptualized by the same individual and how different individuals conceptualize the same supernatural beings. In Experiment 1, college undergraduates decided whether three types of human properties (psychological, biological, physical) could or could not be attributed to two types of supernatural beings (religious, fictional). On average, participants attributed more human properties to fictional beings, like fairies and vampires, than to religious beings, like God and Satan, and they attributed more psychological properties than nonpsychological properties to both. In Experiment 2, 5-year-old children and their parents made both open-ended and closed-ended property attributions. Although both groups of participants attributed a majority of human properties to the fictional beings, children attributed a majority of human properties to the religious beings as well. Taken together, these findings suggest that anthropomorphic theories of supernatural-being concepts, though fully predictive of children's concepts, are only partially predictive of adults' concepts. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

On gender role conflict in men—Future directions and implications for counseling: Comment on Good et al. (1995) and Cournoyer and Mahalik (1995).

15 yrs of research on gender role conflict indicate it has been a fruitful construct in counseling psychology. G. E. Good, J. M. Robertson, J. M. O'Neil, L. F. Fitzgerald, M. Stevens, K. A. Debord, K. M. Bartels, and D. B. Braverman (1995) and R. J. Cournoyer and J. R. Mahalik (1995) add to the empirical knowledge and are certain to stimulate thinking in this area. In this comment, issues related to (a) psychological maladjustment, (b) test development, (c) life span development, and (d) practice implications are discussed. Although clear progress is being made, much more is unknown about how gender-related variables positively and negatively affect male development and, subsequently, the practice of counseling psychology. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

A new species of Phoreiobothrium (Cestoidea:Tetraphyllidea) from the great hammerhead shark Sphyrna mokarran and its implications for the evolution of the onchobothriid scolex

Phoreiobothrium manirei n. sp. is described from the spiral intestines of 3 immature individuals of the great hammerhead shark Sphyrna mokarran collected off of the west coast of Florida. This cestode is unusual in that it possesses 4 muscular papillae on the anterior margin of the accessory sucker. Numerous small protrusions with central cilium-like projections were conspicuous throughout the posterior margin of each bothridium. This species possesses the unique combination of bothridia posteriorly subdivided into subloculi and hooks with extended bases and 2 rather than 3 prongs. In fact, the hooks are strikingly like those of species in the genera Dicranobothrium and Platybothrium. This combination of characters suggests that the bifid hook condition is plesiomorphic with respect to the trifid hook condition within the Onchobothriidae. These data further suggest that the triloculated bothridial condition is plesiomorphic relative to the biloculated condition.     

Song frequency as a cue for recognition of species and individuals in the field sparrow (Spizella pusilla).

Estimated the amount of frequency variation that affected individual and species recognition by song in territorial male field sparrows with field playbacks of neighbors' songs lowered in frequency in 6 increments between 324 and 1296 Hz. Males gave strong responses to neighbors' songs that had been lowered by about 400 Hz, which is about 11% of the mean midfrequency in field sparrow song. Territorial responses were eliminated when neighbors' songs were lowered by more than about 900 Hz. Thus, there is a fairly narrow range of frequencies within which field sparrow songs can vary while functioning in communication. Ss' responses appear to be constrained by the normal range of song frequency variation within the species, but the range of variability within songs of individuals did not influence the degree of frequency shift required to render neighbors' songs unfamiliar. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Linkage analysis of candidate genes in autoimmune thyroid disease. II. Selected gender-related genes and the X-chromosome. International Consortium for the Genetics of Autoimmune Thyroid Disease

Hashimoto's thyroiditis (HT) and Graves' disease (GD) are autoimmune thyroid diseases (AITD) in which multiple genetic factors are suspected to play an important role. Until now, only a few minor risk factors for these diseases have been identified. Susceptibility seems to be stronger in women, pointing toward a possible role for genes related to sex steroid action or mechanisms related to genes on the X-chromosome. We have studied a total of 45 multiplex families, each containing at least 2 members affected with either GD (55 patients) or HT (72 patients), and used linkage analysis to target as candidate susceptibility loci genes involved in estrogen activity, such as the estrogen receptor alpha and beta and the aromatase genes. We then screened the entire X-chromosome using a set of polymorphic microsatellite markers spanning the whole chromosome. We found a region of the X-chromosome (Xq21.33-22) giving positive logarithm of odds (LOD) scores and then reanalyzed this area with dense markers in a multipoint analysis. Our results excluded linkage to the estrogen receptor alpha and aromatase genes when either the patients with GD only, those with HT only, or those with any AITD were considered as affected. Linkage to the estrogen receptor beta could not be totally ruled out, partly due to incomplete mapping information for the gene itself at this time. The X-chromosome data revealed consistently positive LOD scores (maximum of 1.88 for marker DXS8020 and GD patients) when either definition of affectedness was considered. Analysis of the family data using a multipoint analysis with eight closely linked markers generated LOD scores suggestive of linkage to GD in a chromosomal area (Xq21.33-22) extending for about 6 cM and encompassing four markers. The maximum LOD score (2.5) occurred at DXS8020. In conclusion, we ruled out a major role for estrogen receptor alpha and the aromatase genes in the genetic predisposition to AITD. Estrogen receptor beta remains a candidate locus. We found a locus on Xq21.33-22 linked to GD that may help to explain the female predisposition to GD. Confirmation of these data in HT may require study of an extended number of families because of possible heterogeneity.     

Comparison of the physical characteristics of grooming in two species of macaques (Macaca nemestrina and M. radiata).

Examined social grooming in groups of bonnet and pigtail macaques to test the hypothesis that the physical aspects of grooming (body sites, postures, methods) evolved in more aggressive species of primates to serve social functions (proximity maintenance and tension reduction). Both species used social presents to direct grooming to particular sites, and used grooming to other sites to terminate interactions, thus regulating proximity with grooming to certain body sites. The 2 species differed in method of grooming: Pigtails primarily stroked (method used for tension reduction); bonnets picked or pick-stroked (method used for hygiene). Pigtail but not bonnet grooming method regulates tension reduction. Pigtails groomed in a social context, whereas bonnets groomed in solitary context. The pigtail results are similar to those found with rhesus monkeys. Different aspects of grooming serve different functions. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

"Genetic influences on the dynamics of pain and affect in fibromyalgia": Correction to Finan et al. (2010).

Reports an error in "Genetic influences on the dynamics of pain and affect in fibromyalgia" by Patrick H. Finan, Alex J. Zautra, Mary C. Davis, Kathryn Lemery–Chalfant, Jonathan Covault and Howard Tennen (Health Psychology, 2010[Mar], Vol 29[2], 134-142). In the article, grant information was omitted from the author note. The authors wish to acknowledge grant support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01 AR046034: Alex J. Zautra, PI). (The following abstract of the original article appeared in record 2010-04888-006.) Objective: The purpose of the present investigation was to determine if variation in the catechol- O-methyltransferase (COMT) and mu-opioid receptor (OPRM1) genes is associated with pain-related positive affective regulation in fibromyalgia (FM). Design: Forty-six female patients with FM completed an electronic diary that included daily assessments of positive affect and pain. Between- and within-person analyses were conducted with multilevel modeling. Main Outcome Measure: Daily positive affect was the primary outcome measure. Results: Analyses revealed a significant gene × experience interaction for COMT, such that individuals with met/met genotype experienced a greater decline in positive affect on days when pain was elevated than did either val/met or val/val individuals. This finding supports a role for catecholamines in positive affective reactivity to FM pain. A gene × experience interaction for OPRM1 also emerged, indicating that individuals with at least one asp?? allele maintained greater positive affect despite elevations in daily pain than those homozygous for the asn?? allele. This finding may be explained by the asp?? allele’s role in reward processing. Conclusions: Together, the findings offer researchers ample reason to further investigate the contribution of the catecholamine and opioid systems, and their associated genomic variants, to the still poorly understood experience of FM. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Ionizing radiation and genetic risks. VII. The concept of mutation component and its use in risk estimation for Mendelian diseases

The responsiveness of Mendelian diseases to an increase in the mutation rate is studied by using the concept of the mutation component (MC) of genetic diseases. Algebraic expressions to evaluate MC at any specific generation following either a one-time or a permanent increase in mutation rate are derived and are illustrated with numerical examples. For a one-time increase in mutation rate, the analysis shows that the first generation MC for autosomal dominant diseases is equal to the selection coefficient; this is also true for X-linked diseases (adjusted for the proportion of X-chromosomes in males). For autosomal recessive diseases the first generation MC is substantially smaller than that for autosomal dominants. In subsequent generations MC gradually decays to zero. Under conditions of a permanent increase in the mutation rate, the MC for autosomal dominant, X-linked and completely recessive autosomal disorders progressively increases to reach a value of one at the new equilibrium. For incompletely recessive autosomal disorders, however, the MC at equilibrium can be larger than one. The rates of approach to the new equilibrium are different for the different classes of diseases, dictated by selection and time (in generations) following radiation exposure. The effects of increases in mutation rate on MC are more pronounced for autosomal dominants, followed by X-linked and are far less for autosomal recessives. Even for autosomal dominants, the early generation effects of radiation exposures would not be appreciable unless the heterozygotes have a severely reduced fitness.     

Ionizing radiation and genetic risks. VIII. The concept of mutation component and its use in risk estimation for multifactorial diseases

Multifactorial diseases, which include the common congenital abnormalities (incidence: 6%) and chronic diseases with onset predominantly in adults (population prevalence: 65%), contribute substantially to human morbidity and mortality. Their transmission patterns do not conform to Mendelian expectations. The model most frequently used to explain their inheritance and to estimate risks to relatives is a Multifactorial Threshold Model (MTM) of disease liability. The MTM assumes that: (i) the disease is due to the joint action of a large number of genetic and environmental factors, each of which contributing a small amount of liability, (ii) the distribution of liability in the population is Gaussian and (iii) individuals whose liability exceeds a certain threshold value are affected by the disease. For most of these diseases, the number of genes involved or the environmental factors are not fully known. In the context of radiation exposures of the population, the question of the extent to which induced mutations will cause an increase in the frequencies of these diseases has remained unanswered. In this paper, we address this problem by using a modified version of MTM which incorporates mutation and selection as two additional parameters. The model assumes a finite number of gene loci and threshold of liability (hence, the designation, Finite-Locus Threshold Model or FLTM). The FLTM permits one to examine the relationship between broad-sense heritability of disease liability and mutation component (MC), the responsiveness of the disease to a change in mutation rate. Through the use of a computer program (in which mutation rate, selection, threshold, recombination rate and environmental variance are input parameters and MC and heritability of liability are output estimates), we studied the MC-heritability relationship for (i) a permanent increase in mutation rate (e.g., when the population sustains radiation exposure in every generation) and (ii) a one-time increase in mutation rate. Our investigation shows that, for a permanent increase in mutation rate of 15%, MC in the first few generations is of the order of 1-2%. This conclusion holds over a broad range of heritability values above about 30%. At equilibrium, however, MC reaches 100%. For a one-time increase in mutation rate, MC reaches its maximum value (of 1-2%) in the first generation, followed by a decline to zero in subsequent generations. These conclusions hold for so many combinations of parameter values (i.e., threshold, selection coefficient, number of loci, environmental variance, spontaneous mutation rate, increases in mutation rate, levels of 'interaction' between genes and recombination rates) that it can be considered to be relatively robust. We also investigated the biological validity of the FLTM in terms of the minimum number of loci, their mutation rates and selection coefficients needed to explain the incidence of multifactorial diseases using the theory of genetic loads. We argue that for common multifactorial diseases, selection coefficients are small in present-day human populations. Consequently, with mutation rates of the order known for Mendelian genes, the FLTM with a few loci and weak selection provides a good approximation for studying the responsiveness of multifactorial diseases to radiation exposures.     

Differential kinship effect on reconciliation in three species of macaques (Macaca fascicularis, M. fuscata, and M. sylvanus).

Macaque societies are typically characterized by despotic dominance styles and strong bonds between related individuals. Interspecies variation in dominance style, however, has been recently documented. This study investigated whether kinship effects on social interactions vary depending on the species dominance style. Reconciliation was chosen as a measure of relationship quality between group members. Groups of Japanese (Macaca fuscata) and long-tailed (M. fascicularis) macaques were selected for their highly despotic style, and Barbary (M. sylvanus) macaques were chosen for their lower level of despotism. The findings confirmed the hypothesis that kinship effects on reconciliation are stronger the more despotic the species is. Barbary macaque nonkin reconciled more often than nonkin of the other 2 species. In addition, the differences in reconciliation frequency between kin and nonkin were less pronounced among the less despotic Barbary macaques. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Evidence for AT-transversion bias in wasp (Hymenoptera: Symphyta) mitochondrial genes and its implications for the origin of parasitism

BACKGROUND: Recent family studies established that the low-incidence red cell antigen WARR is not part of the MNS, Lutheran, Lewis, Duffy, Kidd, Xg, Chido/ Rodgers, Kx, or Gerbich blood group systems. Continued serologic and genetic studies of WARR suggest that it is carried on erythroid band 3. STUDY DESIGN AND METHODS: To test the hypothesis that expression of WARR is controlled by the anion exchanger 1 gene (AE1), AE1 intronic primers that flank the exons encoding the membrane domain of band 3 were prepared. Polymerase chain reaction-amplified products corresponding to exons 11-20 of AE1 were analyzed for single-strand conformational polymorphism (SSCP) in DNA from WARR-positive and WARR-negative individuals. RESULTS: An SSCP was detected in exon 14. Subsequent sequencing revealed a C-->T mutation in codon 552 that leads to a Thr-->Ile substitution. Because the C-->T mutation eliminates a Bbs I restriction site, it was possible to confirm the phenotypes of all family members. To study the possible effect of the Thr552-->Ile substitution on the expression and function of band 3, polymerase chain reaction-amplified reverse-transcribed reticulocyte mRNA was digested with Bbs I. Both alleles of band 3 mRNA were detected in similar quantities, which suggests that the substitution underlying WARR did not interfere with mRNA stability. Comparison of sodium dodecyl sulfate-polyacrylamide gel electrophoretic mobility and size patterns revealed no difference between proteins isolated from WARR-positive and WARR-negative red cells. Further, the presence of WARR did not alter the di-isothiocyano-dihydrostilbene disulfonate (DIDS)-inhibitable influx of radiolabeled sulfate. CONCLUSION: Although it appears inconsequential to the function of band 3, the red cell polymorphism known as WARR is controlled by AE1. WARR should be therefore included in the Diego blood group system.     

Regularities and irregularities in the structure of the seminiferous epithelium in the domestic fowl (Gallus domesticus). II. Co-ordination between germ cell associations

It was investigated in the domestic fowl, whether a mechanism for a synchronous start of the proliferation of the differentiating spermatogonia in a transversely cut seminiferous tubule (called the "co-ordination" between germ cell association) operates effectively in this species. A trapezoid-shaped cellular association demarcated by two perpendiculars from the tubular lumen to the basement membrane was the unit of observation (provisionally called a "column" Each column is composed of a bundle of elongate spermatids and the neighbouring, various types of germ cells). The extent of closeness of the co-ordination was examined in a total of 2,650 columns, based on the continuity of the spermiogenic step-number of the youngest generation of spermatids within adjacent columns. In no case did all columns in a tubular cross section show the same-step spermatids. In most cases (50.2% of 2,650 columns), the same number was kept in only 2 to 6 adjacent columns. The arrangement of different but consecutive numbers (e.g., 1-2-3 or 1-2-1) was observed in a total of 882 columns. The co-ordination mechanism, therefore, is considered to work, albeit incomplete, among a limited number of adjacent columns in this species.     

Differences in affiliative behavior, pair bonding, and vaginal cytology in two species of vole (Microtus ochrogaster and M. montanus).

Prairie voles (Microtus ochrogaster) and montane voles (M. montanus) display marked differences in social organization in the field. Trios of 1 male and 2 females were studied in a large enclosure for a 10-day period. Prairie voles spent 59% of the observation time in side-by-side contact, whereas montane voles spent only 7% of the time in contact. Vaginal smears indicated female–female suppression of estrus in prairie voles; female montane voles appeared to cycle in the presence of males. Male prairie voles preferentially paired and nested with 1 of the females, and vaginal estrus generally followed pair formation by 2 days. Male montane voles did not spend time preferentially with either female, even after mating. These results suggest that the contrasting mating systems of these species result from differences in the propensity for affiliative behavior and social bonding rather than from mate availability or female receptivity. (PsycINFO Database Record (c) 2010 APA, all rights reserved)