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PubMed2002

Septin ring assembly involves cycles of GTP loading and hydrolysis by Cdc42p.

At the beginning of the budding yeast cell cycle, the GTPase Cdc42p promotes the assembly of a ring of septins at the site of future bud emergence. Here, we present an analysis of cdc42 mutants that display specific defects in septin organization, which identifies an important role for GTP hydrolysis by Cdc42p in the assembly of the septin ring. The mutants show defects in basal or stimulated GTP hydrolysis, and the septin misorganization is suppressed by overexpression of a Cdc42p GTPase-activating protein (GAP). Other mutants known to affect GTP hydrolysis by Cdc42p also caused septin misorganization, as did deletion of Cdc42p GAPs. In performing its roles in actin polarization and transcriptional activation, GTP-Cdc42p is thought to function by activating and/or recruiting effectors to the site of polarization. Excess accumulation of GTP-Cdc42p due to a defect in GTP hydrolysis by the septin-specific alleles might cause unphysiological activation of effectors, interfering with septin assembly. However, the recessive and dose-sensitive genetic behavior of the septin-specific cdc42 mutants is inconsistent with the septin defect stemming from a dominant interference of this type. Instead, we suggest that assembly of the septin ring involves repeated cycles of GTP loading and GTP hydrolysis by Cdc42p. These results suggest that a single GTPase, Cdc42p, can act either as a ras-like GTP-dependent "switch" to turn on effectors or as an EF-Tu-like "assembly factor" using the GTPase cycle to assemble a macromolecular structure.

Actins↗
PubMed2001

The EthoVision video tracking system--a tool for behavioral phenotyping of transgenic mice.

Video tracking systems enable behavior to be studied in a reliable and consistent way, and over longer time periods than if they are manually recorded. The system takes an analog video signal, digitizes each frame, and analyses the resultant pixels to determine the location of the tracked animals (as well as other data). Calculations are performed on a series of frames to derive a set of quantitative descriptors of the animal's movement. EthoVision (from Noldus Information Technology) is a specific example of such a system, and its functionality that is particularly relevant to transgenic mice studies is described. Key practical aspects of using the EthoVision system are also outlined, including tips about lighting, marking animals, the arena size, and sample rate. Four case studies are presented, illustrating various aspects of the system: (1) The effects of disabling the Munc 18-1 gene were clearly shown using the straightforward measure of how long the mice took to enter a zone in an open field. (2) Differences in exploratory behavior between short and long attack latency mice strains were quantified by measuring the time spent in inner and outer zones of an open field. (3) Mice with hypomorphic CREB alleles were shown to perform less well in a water maze, but this was only clear when a range of different variables were calculated from their tracks. (4) Mice with the trkB receptor knocked out in the forebrain also performed poorly in a water maze, and it was immediately apparent from examining plots of the tracks that this was due to thigmotaxis. Some of the latest technological developments and possible future directions for video tracking systems are briefly discussed.

Activating Transcription Factor 1↗
PubMed1968

Mutation in pneumococcus type 3 affecting multiple cistrons concerned with the synthesis of capsular polysaccharide.

The genetic behavior in transformation reactions of 20 noncapsulated mutants of pneumococcus type III suggests that each has a single-site mutation in the locus controlling the synthesis of uridine diphosphate glucose (UDPG) dehydrogenase. Each strain is capable of yielding transformants of the binary capsular type SI-III when exposed to deoxyribonucleic acid (DNA) from type I cells. One additional mutant reacted differently and behaved as if it were a multisite mutant with the mutation affecting both the locus for UDPG dehydrogenase and that controlling the synthesis of high molecular weight type III capsular polysaccharide. When exposed to DNA from type I pneumococci, this strain yielded transformants which were genotypically binary but which expressed only the type I capsular phenotype.

DNA, Bacterial↗
PubMed2001

Anatomical risk factors for phonological dyslexia.

Successful behavioral genetic studies require precise definition of a homogenous phenotype. This study searched for anatomical markers that might restrict variability in the reading disability phenotype. The subjects were 15 college students (8 male/7 female) diagnosed with a reading disability (RD) and 15 controls (8 males/7 females). All subjects completed a cognitive and reading battery. Only 11 of the RD subjects had a phonological deficit [phonological dyslexia (PD): pseudo word decoding scores < 90 (27th percentile)]. Thirteen RD (9 PD) and 15 controls received a volumetric MRI scan. Four anatomical measures differentiated the PD group from the remainder of the subjects: (i) marked rightward cerebral asymmetry, (ii) marked leftward asymmetry of the anterior lobe of the cerebellum, (ii) combined leftward asymmetry of the planum and posterior ascending ramus of the sylvian fissure, and (iv) a large duplication of Heschl's gyrus on the left. When these four measures were normalized and summed, the resulting variable predicted short- and long-term phonological memory. By contrast, oral and written comprehension skills were predicted by a different anatomical variable: low cerebral volume. These findings provide neurobiological support for an RD phenotype characterized by phonological deficits in the presence of normal or superior comprehension. The study of individual variation in cortical structure may provide a useful link between genotype and behavior.

Adult↗
PubMed2006

How to change environmental conditions for health.

Since the Lalonde report, contemporary public-health theory has given steadily more attention to the role of environments in influencing health status. Environments, both social and physical, influence health directly or through complex interactions with behavior, genetics and health-care systems. They are also important for public-health because environments are the complex systems through which people are both empowered and exercise their empowerment. If public-health professionals are to play a significant role in influencing environments for health, they need analytical instruments that enable them to link specific environmental conditions with the actions necessary to improve them. These instruments must also enable public-health professionals to identify points of leverage for stimulating key actors to take the actions necessary to make environments more promoting of health. This article first presents one such analytical instrument. Then, building on examples relating to socio-economic health inequities, the analytical instrument is applied to reveal how it can add value to health professionals' effectiveness in planning interventions for more health-promoting environments.

Environment↗
PubMed2000

Specific life events and chronic experiences differentially associated with depression and anxiety in young twins.

Behavioral genetic analyses indicate that environmental influences associated with depression and anxiety are specific to each symptom type; however, this has not been tested specifically in children. Sixty-one (61) child twin pairs in which at least one twin had a very high anxiety or depression score, and 29 nonanxious, nondepressed pairs were interviewed about life events and chronic stressors in the previous 12 months. Loss events, schoolwork stressors, family relationship problems, and friendship problems were all significantly associated with depression but not anxiety. Threat events were significantly associated with anxiety but not depression. Loss events and schoolwork stressors appeared to act as shared environment influences in that they made twin pairs resemble one another. Threat events, friendship problems, and family relationship problems were individual specific and accounted for differences within the pairs. These results clarify the associations between life events and depressive and anxious symptoms in children and adolescents and reveal specific associations previously unidentified in this age range.

Adolescent↗
PubMed1987

Molecular-marker-facilitated investigations of quantitative-trait loci in maize. I. Numbers, genomic distribution and types of gene action.

Individual genetic factors which underlie variation in quantitative traits of maize were investigated in each of two F2 populations by examining the mean trait expressions of genotypic classes at each of 17-20 segregating marker loci. It was demonstrated that the trait expression of marker locus classes could be interpreted in terms of genetic behavior at linked quantitative trait loci (QTLs). For each of 82 traits evaluated, QTLs were detected and located to genomic sites. The numbers of detected factors varied according to trait, with the average trait significantly influenced by almost two-thirds of the marked genomic sites. Most of the detected associations between marker loci and quantitative traits were highly significant, and could have been detected with fewer than the 1800-1900 plants evaluated in each population. The cumulative, simple effects of marker-linked regions of the genome explained between 8 and 40% of the phenotypic variation for a subset of 25 traits evaluated. Single marker loci accounted for between 0.3% and 16% of the phenotypic variation of traits. Individual plant heterozygosity, as measured by marker loci, was significantly associated with variation in many traits. The apparent types of gene action at the QTLs varied both among traits and between loci for given traits, although overdominance appeared frequently, especially for yield-related traits. The prevalence of apparent overdominance may reflect the effects of multiple QTLs within individual marker-linked regions, a situation which would tend to result in overestimation of dominance. Digenic epistasis did not appear to be important in determining the expression of the quantitative traits evaluated. Examination of the effects of marked regions on the expression of pairs of traits suggests that genomic regions vary in the direction and magnitudes of their effects on trait correlations, perhaps providing a means of selecting to dissociate some correlated traits. Marker-facilitated investigations appear to provide a powerful means of examining aspects of the genetic control of quantitative traits. Modifications of the methods employed herein will allow examination of the stability of individual gene effects in varying genetic backgrounds and environments.

Chromosome Mapping↗
PubMed2000

(CA/GT)(n) microsatellites affect homologous recombination during yeast meiosis.

One of the most common microsatellites in eukaryotes consists of tandem arrays of the dinucleotide GT. Although the study of the instability of such repetitive DNA has been extremely fruitful over the last decade, no biological function has been demonstrated for these sequences. We investigated the genetic behavior of a region of the yeast Saccharomyces cerevisiae genome containing a 39-CA/GT dinucleotide repeat sequence. When the microsatellite sequence was present at the ARG4 locus on homologous chromosomes, diploid cells undergoing meiosis generated an excess of tetrads containing a conversion of the region restricted to the region of the microsatellite close to the recombination-initiation double-strand break. Moreover, whereas the repetitive sequence had no effect on the frequency of single crossover, its presence strongly stimulated the formation of multiple crossovers. The combined data strongly suggest that numerous recombination events are restricted to the initiation side of the microsatellite as though progression of the strand exchange initiated at the ARG4 promoter locus was impaired by the repetitive sequence. This observation corroborates in vitro experiments that demonstrated that RecA-promoted strand exchange is inhibited by CA/GT dinucleotide tracts. Surprisingly, meiotic instability of the microsatellite was very high (>0.1 alterations per tetrad) in all the spores with parental and recombinant chromosomes.

Argininosuccinate Lyase↗
PubMed2006

Isolation and characterization of sex chromosome rearrangements generating male muscle dystrophy and female abnormal oogenesis in the silkworm, Bombyx mori.

In deletion-mapping of W-specific RAPD (W-RAPD) markers and putative female determinant gene (Fem), we used X-ray irradiation to break the translocation-carrying W chromosome (W( Ze )). We succeeded in obtaining a fragment of the W( Ze ) chromosome designated as Ze (W), having 3 of 12 W-RAPD markers (W-Bonsai, W-Yukemuri-S, W-Yukemuri-L). Inheritance of the Ze (W) fragment by males indicates that it does not include the Fem gene. On the basis of these results, we determined the relative positions of W-Yukemuri-S and W-Yukemuri-L, and we narrowed down the region where Fem gene is located. In addition to the Ze (W) fragment, the Z chromosome was also broken into a large fragment (Z(1)) having the +( sch ) (1-21.5) and a small fragment (Z(2)) having the +( od ) (1-49.6). Moreover, a new chromosomal fragment (Ze (W)Z(2)) was generated by a fusion event between the Ze (W) and the Z(2) fragments. We analyzed the genetic behavior of the Z(1) fragment and the Ze (W)Z(2) fragment during male (Z/Z(1) Ze (W)Z(2)) and female (Z(1) Ze (W)Z(2)/W) meiosis using phenotypic markers. It was observed that the Z(1) fragment and the Z or the W chromosomes separate without fail. On the other hand, non-disjunction between the Ze (W)Z(2) fragment and the Z chromosome and also between the Ze (W)Z(2) fragment and the W chromosome occurred. Furthermore, the females (2A: Z/Ze (W)Z(2)/W) and males (2A: Z/Z(1)) resulting from non-disjunction between the Ze (W)Z(2) fragment and the W chromosome had phenotypic defects: namely, females exhibited abnormal oogenesis and males were flapless due to abnormal indirect flight muscle structure. These results suggest that Z(2) region of the Z chromosome contains dose-sensitive gene(s), which are involved in oogenesis and indirect flight muscle development.

Animals↗
PubMed1975

Isolation and characterization of recessive, constitutive mutations for repressible acid phosphatase synthesis in Saccharomyces cerevisiae.

Two new classes of mutants containing recessive constitutive mutations, phoT and phoU, that affect the repressible acid phosphatase (EC 3.1.3.2) in Saccharomyces cerevisiae were isolated along with many previously known phoR mutants. These loci segregated independently from each other, from the phoS gene, and from another regulatory gene, phoD, that exerts positive control for acid phosphatase synthesis. The phoR and phoU mutations showed the same genetic behavior in the double mutants, which also contained the phoS or phoD mutation. In contrast, the phoT mutation could not suppress the phoS mutation, which caused a loss of enzyme activity. Many mutant alleles of phoR and phoU were found to be temperature sensitive (ts), whereas those of phoT were not. These ts mutants were constitutive at 35 C but severely repressible at 25 C. These facts strongly suggest that both the phoR and phoU genes are cooperatively concerned with the production of the repressor, whereas the phoT gene might be involved in another mechanism distinct from that in which phoR and phoU are involved. No single mutation of phoR, phoT, or phoU result in an enzyme level comparable to that of fully derepressed enzyme activities, and the temperature sensitivity of the ts phoR and ts phoU mutations in such combinations almost disappeared. In addition to these observations, since the ts phoR phoS and ts phoU phoS double mutants showed some enzyme synthesis at 25 C under derepressing conditions, a defect in the ts mutant repressors was strongly suggested, even at 25 C.

Acid Phosphatase↗
PubMed1986

The evolutionarily conserved repetitive sequence d(TG.AC)n promotes reciprocal exchange and generates unusual recombinant tetrads during yeast meiosis.

We have studied the genetic behavior of the alternating copolymer d(TG.AC)n inserted into a defined position in the genome of the yeast Saccharomyces cerevisiae. When d(TG.AC)n sequences were present at the HIS3 locus on homologous chromosomes, diploid cells undergoing meiosis generated an excess of tetrads containing reciprocally recombined products with crossover points close to the repetitive DNA insert. Most of these tetrads exhibited gene conversion of a d(TG.AC)n insert. However, the insertion of d(TG.AC)n sequences had no effect on the frequency of gene conversion of closely linked marker genes. Surprisingly, when d(TG.AC)n sequences were present on only one homolog at the HIS3 locus, one-half of the tetrads exhibiting nonparental segregation for marker genes that flanked the repetitive DNA insert were very unusual and appeared to have arisen by multiple recombination events in the vicinity of the d(TG.AC)n insert. Similar multiply recombinant tetrads were seen in crosses in which d(TG.AC)n sequences were present on both homologs. Combined, the data strongly suggest that d(TG.AC)n sequences significantly enhance reciprocal meiotic recombination and may be important in causing multiple recombination events to occur within a relatively small region of the yeast chromosome. Molecular evidence is presented that clearly documents the postmeiotic segregation of an 80-base stretch of d(TG.AC)n.

Biological Evolution↗
PubMed2006

PMS2 mutations in childhood cancer.

Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus. New studies have shown, however, that earlier analyses of this gene have had technical limitations and also that the genetic behavior of mutant PMS2 alleles is unusual, in that, unlike MLH1 or MSH2 mutations, PMS2 mutations show low heterozygote penetrance. As a result, a dominantly inherited cancer predisposition has not been a feature reported in families with PMS2 mutations. Such families have instead been ascertained through childhood-onset cancers in homozygotes or through apparently sporadic colorectal cancer in heterozygotes. We present further information on the phenotype associated with homozygous PMS2 deficiency in 13 patients from six families of Pakistani origin living in the United Kingdom. This syndrome is characterized by café-au-lait skin pigmentation and a characteristic tumor spectrum, including leukemias, lymphomas, cerebral malignancies (such as supratentorial primitive neuroectodermal tumors, astrocytomas, and glioblastomas), and colorectal neoplasia with an onset in early adult life. We present evidence for a founder effect in five families, all of which carried the same R802-->X mutation (i.e., arginine-802 to stop) in PMS2. This cancer syndrome can be mistaken for neurofibromatosis type 1, with important management implications including the risk of the disorder occurring in siblings and the likelihood of tumor development in affected individuals.

Adenosine Triphosphatases↗
PubMed2006

Neurotoxic protein expression reveals connections between the circadian clock and mating behavior in Drosophila.

To investigate the functions of circadian neurons, we added two strategies to the standard Drosophila behavioral genetics repertoire. The first was to express a polyglutamine-expanded neurotoxic protein (MJDtr78Q; MJD, Machado-Joseph disease) in the major timeless (tim)-expressing cells of the adult brain. These Tim-MJD flies were viable, in contrast to the use of cell-death gene expression for tim neuron inactivation. Moreover, they were more arrhythmic than flies expressing other neurotoxins and had low but detectable tim mRNA levels. The second extended standard microarray technology from fly heads to dissected fly brains. By combining the two approaches, we identified a population of Tim-MJD-affected mRNAs. Some had been previously identified as sex-specific and relevant to courtship, including mRNAs localized to brain-proximal fat-body tissue and brain courtship centers. Finally, we found a decrease in the number of neurons that expressed male-specific forms of the fruitless protein in the laterodorsal region of the brain. The decrease was not a consequence of toxic protein expression within these specialized cells but a likely effect of communication with neighboring TIM-expressing neurons. The data suggest a functional interaction between adjacent circadian and mating circuits within the fly brain, as well as an interaction between circadian circuits and brain-proximal fat body.

Animals↗
PubMed1992

Motor activity and the mesotelencephalic dopamine function. I. High-resolution temporal and genetic analysis of open-field behavior.

In a genetic selection experiment whose goal was to construct congenic neurological animal model lines with different mesotelencephalic dopamine systems, we produced foundation F2 generations derived from crosses (C57BL/6ByJXBALB/cJ and C57BL/6ByJXCXBI/ByJ) between highly inbred mouse lines with different dopamine systems. In this report, temporal distribution, latency, and genetic variability of open-field (OF) behavioral variables were investigated in order to establish a behavioral profile for the various generations and to provide behavioral data as a first step towards multivariate studies on correlations between OF behaviors and mesencephalic and striatal tyrosine hydroxylase activity. Analysis of the behavioral data provided evidence that measures of the open-field behaviors varied significantly across time segments of the test and that the temporal profiles of several behavioral variables were genotype-dependent. It is suggested that (1) OF behaviors have dynamic temporal profiles, and (2) temporal-genetic analysis can be a useful auxiliary method in the functional interpretation of behavior.

Animals↗
PubMed1996

Common endocrine and genetic mechanisms of behavioral development in male and worker honey bees and the evolution of division of labor.

Temporal polyethism is a highly derived form of behavioral development displayed by social insects. Hormonal and genetic mechanisms regulating temporal polyethism in worker honey bees have been identified, but the evolution of these mechanisms is not well understood. We performed three experiments with male honey bees (drones) to investigate how mechanisms regulating temporal polyethism may have evolved because, relative to workers, drones display an intriguing combination of similarities and differences in behavioral development. We report that behavioral development in drones is regulated by mechanisms common to workers. In experiment 1, drones treated with the juvenile hormone (JH) analog methoprene started flying at significantly younger ages than did control drones, as is the case for workers. In experiment 2, there was an age-related increase in JH associated with the onset of drone flight, as in workers. In experiment 3, drones derived from workers with fast rates of behavioral development themselves started flying at younger ages than drones derived from workers with slower rates of behavioral development. These results suggest that endocrine and genetic mechanisms associated with temporal polyethism did not evolve strictly within the context of worker social behavior.

Aging↗
PubMed2000

Twin study of the etiology of comorbidity between reading disability and attention-deficit/hyperactivity disorder.

This study utilized a sample of 313 eight- to sixteen-year-old same-sex twin pairs (183 monozygotic, 130 dizygotic) to assess the etiology of comorbidity between reading disability (RD) and attention-deficit/hyperactivity disorder (ADHD). RD was assessed by a discriminant function score based on the Peabody Individual Achievement Test, a standardized measure of academic achievement. The DSM-III version of the Diagnostic Interview for Children and Adolescents was used to assess symptoms of ADHD, and separate factor scores were computed for inattention and hyperactivity/impulsivity (hyp/imp). Individuals with RD were significantly more likely than individuals without RD to exhibit elevations on both symptom dimensions, but the difference was larger for inattention than hyp/imp. Behavior genetic analyses indicated that the bivariate heritability of RD and inattention was significant (h(2)(g(RD/Inatt)) = 0.39), whereas the bivariate heritability of RD and hyp/imp was minimal and nonsignificant (h(2)(g(RD/Hyp)) = 0.05). Approximately 95% of the phenotypic covariance between RD and symptoms of inattention was attributable to common genetic influences, whereas only 21% of the phenotypic overlap between RD and hyp/imp was due to the same genetic factors.

Adolescent↗
PubMed2001

Down syndrome: progress in research.

This review discusses the research published in the last five years on the behavioral, genetic, medical, and neuroscience aspects of Down syndrome. The subject areas that have experienced the most active research include Alzheimer disease, language development, leukemia, and pregnancy screening and diagnosis. These and other areas are reviewed.

Down Syndrome↗