bluuebunny/crossref_metadata_2025_split huggingface dataset:
TNXB locus may be a candidate gene predisposing to schizophrenia
Authors: Wei J. , Hemmings G.P. 
Published: January 2004

AbstractWe report here on the detection of nine single nucleotide polymorphisms (SNPs) near to the NOTCH4 locus in the search for schizophrenia susceptibility genes in the class III region of the human major histocompatibility complex (MHC). We totally analyzed 122 family trios recruited in the UK. The TDT analysis demonstrated that of the nine SNPs, three were associated with schizophrenia, including rs1009382 (P = 0.00047), rs204887 (P = 0.007), and rs8283 (P = 0.015). Both rs1009382 and rs204887 are present in the TNXB locus. The rs1009382 is a non‐synonymous SNP located in exon 23 of the gene and its A to G base change causes a Glu2578Gly substitution. The goodness‐of‐fit test showed that genotypic distribution of rs1009382 was deviated from Hardy–Weinberg equilibrium due to homozygote excess in the patient group (P = 0.01), suggesting that a double dose of a genetic risk may be involved. Possibly, rs1009382 is a candidate SNP predisposing to a schizophrenic illness. Moreover, the test for linkage disequilibrium (LD) between paired SNPs showed that the nine SNPs studied may be in the same LD block with an unexpected pattern as the strength of LD was not correlated with the distance between paired SNPs. The haplotype analysis suggested that there might be more than one disease‐related allele located in the class III region of the MHC, and that these alleles possibly confer either susceptibility or resistance to schizophrenia. © 2003 Wiley‐Liss, Inc.
No association between the APOE gene and autism
Authors: Raiford K.L. , Shao Y. , Allen I.C. , Martin E.R. , Menold M.M. , Wright H.H. , Abramson R.K. , Worley G. , DeLong G.R. , Vance J.M. , Cuccaro M.L. , Gilbert J.R. , Pericak‐Vance M.A. 
Published: January 2004

AbstractAutism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus on chromosome 19p13.2‐q13.4. The apolipoprotein E (APOE) gene on chromosome 19 encodes for a protein, apoE, whose different isoforms (E2, E3, E4) influence neuronal growth. APOE participates in lipid transport and metabolism, repair, growth, and maintenance of axons and myelin during neuronal development. The APOE protein competes with the Reelin protein for VLDL/APOER2 receptor binding. Several studies have reported evidence for an association between autism and the Reelin gene. Based on these data we tested for association between APOE and autism using family‐based association methods in a data set of 322 autism families. Three promoter, one intronic, and one 3′ UTR single nucleotide polymorphisms (SNPs) in the APOE gene (−491a/t, −427c/t, −219g/t, 113c/g, and 5361c/t) as well as the APOE functional polymorphism (E2, E3, E4) were examined and failed to reveal significant evidence that autism is associated with APOE. © 2003 Wiley‐Liss, Inc.
No association between the insulin degrading enzyme gene and Alzheimer's disease in a Japanese population
Authors: Sakai Ayumu , Ujike Hiroshi , Nakata Kenji , Takehisa Yasushi , Imamura Takaki , Uchida Naohiko , Kanzaki Akihiro , Yamamoto Mitsutoshi , Fujisawa Yoshikatsu , Okumura Kazuya , Kuroda Shigetoshi 
Published: January 2004

AbstractSusceptibility to Alzheimer's disease (AD) is thought to be regulated by multiple genetic factors. Recently, three independent studies have reported that loci on chromosome 10q are linked with AD, and the insulin degrading enzyme (IDE; MIM 146680) gene located on chromosome 10q23‐q25; IDE is located close to the maker D10S583, which exhibits a maximum LOD score for late‐onset AD. We examined seven polymorphisms in the IDE gene, the marker D10S583 in the 5′ flanking region, and SNPs in introns 1, 3, 11, 20, 21, and 22 (rs#1999764, 1855915, 1970244, 538469, 551266, and 489517, respectively). Four SNPs in introns 3, 11, 20, and 22 did not exhibit any polymorphisms in the Japanese population that was studied. D10S583 and two SNPs in introns 1 and 21 did not exhibit a significant association with early‐ or late‐onset AD. In addition, no associations were observed for subgroups of AD grouped according to APOE status. The present study indicates that the IDE gene polymorphisms do not confer susceptibility to early‐ or late‐onset AD at least in a Japanese population. © 2003 Wiley‐Liss, Inc.
Confirming RGS4 as a susceptibility gene for schizophrenia
Authors: Morris Derek W. , Rodgers Alana , McGhee Kevin A. , Schwaiger Siobhan , Scully Paul , Quinn John , Meagher David , Waddington John L. , Gill Michael , Corvin Aiden P. 
Published: January 2004

AbstractA recent study identified a putative association between variants in the regulator of G‐protein signalling 4 (RGS4) and schizophrenia, Chowdari et al. [2002: Hum Mol Genet 11: 1373–1380]. RGS4 is both a positional and functional candidate gene for schizophrenia. Chowdari and colleagues identified association at this locus in a number of distinct and ethnically diverse samples, although the pattern of association was not the same in all the samples. Our study attempted to replicate this association in an independent Irish sample of schizophrenia cases and controls. We succeeded in detecting evidence of association at the RGS4 locus. The signal comes from a four‐marker haplotype that is in significant excess in our case sample. The same haplotype is in excess in the Caucasian schizophrenia sample used by Chowdari et al. [2002: Hum Mol Genet 11: 1373–1380]. This study provides further support for the contribution of RGS4 to schizophrenia susceptibility. © 2003 Wiley‐Liss, Inc.
Polymorphisms in the dopamine D5 receptor (DRD5) gene and ADHD
Authors: Mill Jonathan , Curran Sarah , Richards Sandra , Taylor Eric , Asherson Philip 
Published: January 2004

AbstractThere is considerable evidence to support a role of dopamine‐related genes in the molecular aetiology of attention‐deficit hyperactivity disorder (ADHD). A microsatellite located near the dopamine D5 receptor (DRD5) gene has been associated with ADHD in a number of studies, but other polymorphisms within the vicinity of this gene have not been examined. In this study we genotyped three microsatellites spanning the DRD5 region in a large clinical sample. Overall, we found little evidence to support a role for DRD5 in ADHD. We found no evidence of association with either the previously associated DRD5 marker, or a repeat in the promoter region of the gene. We did, however, find significant association for an allele of D4S615, a dinucleotide repeat located 131 kb 3′ of DRD5 that has been previously associated with schizophrenia. A global test incorporating all alleles of this marker, however, was not significant and thus this finding needs replication before any conclusions can be made. © 2003 Wiley‐Liss, Inc.
Association of tryptophan 2,3 dioxygenase gene polymorphism with autism
Authors: Nabi Rafiqun , Serajee Fatema J. , Chugani Diane C. , Zhong Hailang , Huq A.H.M. Mahbubul 
Published: January 2004

AbstractAlthough elevation of blood and platelet serotonin has been documented in autism, genetic analyses of serotonin transporter gene have given conflicting results. Tryptophan 2,3 dioxygenase (TDO2) is the rate‐limiting enzyme in the catabolism of tryptophan, the precursor of serotonin. A mutation that results in decreased activity of the TDO2 can decrease catabolism of tryptophan and increase the level of whole body serotonin. As such it is a potential candidate gene for autism. We have investigated five single nucleotide polymorphisms in the TDO2 gene for association with autistic disorder. One hundred and ninety six multiplex autistic disorder families were tested using transmission disequilibrium test. There was a significant difference in the transmission of a promoter variant to autistic subjects (P = 0.0006). Haplotype analysis also demonstrated significant difference in the transmission of TDO2 haplotypes to autistic subjects (P = 0.0027). Our results suggest the presence of a susceptibility mutation in the TDO2 or a nearby gene, but may also represent a chance finding. © 2003 Wiley‐Liss, Inc.
Reconciliation and consolation in captive bonobos (Pan paniscus)
Authors: Palagi Elisabetta , Paoli Tommaso , Tarli Silvana Borgognini 
Published: January 2004

AbstractAlthough reconciliation in bonobos (Pan paniscus) has previously been described, it has not been analyzed heretofore by the postconflict (PC) match‐control (MC) method. Furthermore, although reconciliation has been investigated before in this species, consolation has not. In this study we analyzed agonistic and affiliative contacts in all sex‐class combinations to clarify and reevaluate the occurrence of reconciliation in bonobos via the PC‐MC method. We also investigated the occurrence of consolation by analyzing the victims' triadic contact tendency (TCT), the influence of the sex of victims, and the relative occurrence of consolation and reconciliation. We collected 167 pairs of PC‐MC observations in a captive group of bonobos (in Apeldoorn, The Netherlands). The conciliatory tendency (CCT) we obtained was tendentially lower than the mean value previously found for Yerkes captive chimpanzees. Close relationships, which were present in all female–female (FF) and some male–female (MF) dyads, positively affected reconciliation rates. When only adult PC‐MC pairs (157) were considered, the mean TCTs and CCTs did not differ significantly. When we focused on types of PC affiliative contact, in the case of consolation we found a striking preference for sociosexual patterns. As to the relative occurrence of consolation and reconciliation, the highest level of the former was found in the absence of the latter. When reconciliation took place, consolation generally preceded it, suggesting that consolation may be a substitutive behavior. Our findings suggest that even if reconciliation remains the best option, consolation may be an alternative substitute for reconciliation that is used to buffer the tension originating from an unresolved conflict. Reconciliation and consolation are complex phenomena that are probably related to the life history of a group. Given that few studies have been conducted on this subject, we can not at this time make any generalizations regarding conflict resolution in certain species by comparing results among studies. Am. J. Primatol. 62:15–30, 2004. © 2004 Wiley‐Liss, Inc.
Genotyping from semen of wild Japanese macaques (Macaca fuscata)
Authors: Domingo‐Roura Xavier , Marmi Josep , Andrés Olga , Yamagiwa Juichi , Terradas Jaume 
Published: January 2004

AbstractThe noninvasive collection of animal cells is crucial for DNA analyses in wild populations that cannot be disturbed by capture. We describe the collection of 68 semen samples following copulation and masturbation events in wild habituated and nonhabituated troops of Japanese macaques on the protected island of Yakushima. We used this DNA to amplify 390 base pairs (bp) of the mitochondrial DNA control region in 16 individuals from eight troops, and found a monomorphic pattern in agreement with the low variability imposed by geographic isolation and female philopatry. We also amplified two microsatellite loci from samples collected after the resident males of a focal troop had copulated with different females. We found several different allele combinations in samples collected after the observed mating of a single male, indicating the presence of contaminant DNA, presumably from males that had previously mated with the same female. This discovery made it impossible to assign a given sample to a specific male except when the samples were recovered after masturbation events. Thus, it was not possible to test for kinship or estimate allele frequencies from the semen samples. The mixing of semen, and the pattern of sample collection observed in morphologically identified individuals support the notion that strong mating and sperm competition exists among resident and nonresident males. Am. J. Primatol. 62:31–42, 2004. Copyright © 2004 John Wiley & Sons, Ltd.
Changes in locomotor and foraging skills in captive‐born, reintroduced golden lion tamarins (Leontopithecus rosalia rosalia)
Authors: Stoinski T.S. , Beck B.B. 
Published: January 2004

AbstractThe behavior of reintroduced, captive‐born animals is understudied, limiting the scientific understanding and utility of reintroduction as a conservation tool. This work describes changes in locomotor and foraging behaviors in captive‐born golden lion tamarins over the first 18 months after their release into the wild. The subjects included 73 individuals living in and around the Poco das Antas Biological Reserve in Brazil between 1984 and 1996. The differences between animals that survived 6 months after release and those that did not indicate that initial deficiencies in locomotor and foraging abilities are related to survival. Behavioral changes in both juvenile and adult individuals during the first 6 and 18 months after release appear to be primarily related to locomotor abilities; however, the effect of provisioning on foraging abilities is unknown. Juvenile animals showed a larger number of changes relative to adults during the first 6 and 18 months, suggesting that placing tamarins into complex environments early in development may promote the expression of natural behaviors and increase survival opportunities after their release. However, when this is not possible, the best mechanism for reintroducing adult members of this species involves intensive post‐release support rather than pre‐release training, which confers few behavioral advantages. Recommendations for future reintroductions with this and other species include introducing animals to complex environments early in development, and collecting data systematically. Am. J. Primatol. 62:1–13, 2004. © 2004 Wiley‐Liss, Inc.
Behavioral study in the gray mouse lemur (Microcebus murinus) using compounds considered sweet by humans
Authors: Schilling Alain , Danilova Vicktoria , Hellekant Goran 
Published: January 2004

AbstractThis study presents the results from two‐bottle preference (TBP) tests performed on the gray mouse lemur (Microcebus murinus), a small Malagasy primate. We found that of 18 compounds considered sweet by humans, M. murinus preferred only six: D‐tryptophan, dulcin, fructose, sucrose, SC45647, and xylitol. The animals neither preferred nor rejected acesulfame‐K, alitame, aspartame, N‐4‐cyanophenyl‐N′‐cyanoguanidineacetate (CCGA), cyanosuosan, cyclamate, monellin, saccharin, suosan, super‐aspartame, N‐trifluoroacetyl‐L‐glutamyl‐4‐aminophenylcarbonitrile (TGC), and thaumatin. Together with previously recorded taste‐nerve responses in M. murinus to acesulfame‐K, alitame, aspartame, cyclamate, monellin, saccharin, and suosan [Hellekant et al., Chem Senses 18:307–320, 1993b], the current results suggest that these compounds either do not taste sweet to M. murinus or they have an aversive taste component. In this work we also relate these findings to phylogeny. Am. J. Primatol. 62:43–48, 2004. © 2004 Wiley‐Liss, Inc.
Clinical manifestations of cerebral amyloid angiopathy–related inflammation
Authors: Eng Jessica A. , Frosch Matthew P. , Choi Kyungchan , Rebeck G. William , Greenberg Steven M. 
Published: January 2004

AbstractTo explore the clinical effects of inflammation associated with vascular deposits of the amyloid β peptide (Aβ), we analyzed 42 consecutive patients with pathologically diagnosed cerebral amyloid angiopathy (CAA) for evidence of an inflammatory response. Inflammation with giant‐cell reaction surrounding amyloid‐laden vessels was identified in 7 of the 42 cases. The clinical symptoms in each of the seven were subacute cognitive decline or seizure rather than hemorrhagic stroke, the primary clinical presentation in 33 of 35 patients with noninflammatory CAA (p < 0.001). Inflammatory CAA also was associated with radiographic white matter abnormalities, significantly younger age at presentation, and a marked overrepresentation of the apolipoprotein E ε4/ε4 genotype (71% vs 4%, p < 0.001). Of the six inflammatory CAA patients with available follow‐up information, five demonstrated clinical and radiographic improvement after immunosuppressive treatment. The syndrome of CAA‐related perivascular inflammation appears to represent a subset of CAA with clinically distinct symptoms that may respond to immunosuppressive treatment. These data add to evidence that inflammation against Aβ can cause vascular dysfunction, a potential mechanism for the toxic response recently observed in clinical trials of Aβ immunization.
How heritable is Alzheimer's disease late in life? Findings from Swedish twins
Authors: Pedersen Nancy L. , Gatz Margaret , Berg Stig , Johansson Boo 
Published: January 2004

AbstractAlthough genetic effects are known to be important for early onset Alzheimer's disease, little is known about the importance of genetic effects for late‐onset disease. Furthermore, previous studies are based on prevalent cases. Our purpose was to characterize the relative importance of genetic and environmental factors for incident Alzheimer's disease late in life, and to test for differences in the importance of genetic effects at different ages. A cohort of 662 pairs of Swedish twins 52 to 98 years of age who were without symptoms of dementia was followed up for an average of 5 years. Incident dementia cases were detected through follow‐up at 2 to 3‐year intervals using either cognitive testing or telephone screening followed by dementia workups. A physician, psychologist, and nurse gave consensus diagnoses. During the follow‐up period, 5.8% of the sample was diagnosed with Alzheimer's disease. Average age of onset was 83.9 years (standard deviation, 6.3). Of the 26 monozygotic pairs in which at least one twin developed Alzheimer's disease, 5 were concordant (probandwise concordance, 32.2%). The concordance rate for dizygotic pairs was 8.7% (2 of 44 pairs). Structural model fitting indicated that 48% of the variation in liability to Alzheimer's disease could be attributed to genetic variation. Estimates did not differ significantly between twins younger than age 80 years and those older than age 80 years at baseline. Although these genetic estimates for incident disease are lower than those for prevalent disease, the importance of genetic factors for liability to Alzheimer's disease is considerable even late in life.
Prion deposition in olfactory biopsy of sporadic Creutzfeldt–Jakob disease
Authors: Tabaton Massimo , Monaco Salvatore , Cordone Maria Paola , Colucci Monica , Giaccone Giorgio , Tagliavini Fabrizio , Zanusso Gianluigi 
Published: January 2004

AbstractCurrently, definite peripheral markers for the in vivo diagnosis of sporadic Creutzfeldt–Jakob disease (CJD) are not available. Here, we report the presence of pathological prion protein in the olfactory mucosa of a case with sporadic Creutzfeldt–Jakob disease. Prion protein immunoreactivity was detected in an olfactory biopsy performed 45 days after the disease onset, suggesting that the involvement of olfactory epithelium is an early event in sporadic Creutzfeldt–Jakob disease.
Rapid improvements in cortical bone dynamics and structure after lactation in established breeder rats
Authors: Miller Scott C. , Bowman Beth M. 
Published: January 2004

AbstractThe mineral requirements for milk production during lactation usually result in a decrease in maternal skeletal mass during this period. The purpose of this study was to characterize changes in cortical bone formation, resorption, and structure after lactation in established breeder rats. Rats were taken at the end of the second pregnancy, second lactation, and at two, four, and six weeks after the pups were weaned. Age‐related, nulliparous groups were included for comparison. Cortical bone structure and bone formation and resorption were measured at the tibiofibular junction using histomorphometric methods. As expected, there were decreases in cortical bone area, width, and minimum cortical thickness with an increase in marrow cavity area during lactation. Bone formation rates were essentially zero on the periosteal and endocortical surfaces at the end of lactation, while eroded (resorption) endocortical surface was greatly increased compared with the end of pregnancy. At or immediately after weaning, there was a rapid reversal of resorption to formation surface on the endocortical envelope similar to the events of true bone remodeling. Likewise, there was a commencement of bone formation on the periosteal surface. The volume‐ and surface‐referent bone rates measured on the endocortical surface were substantially elevated over those measured at the end of the second pregnancy or in the nulliparous animals. Peak bone formation rates were observed on both the endocortical and periosteal surfaces by four weeks after weaning. These results show that the postlactation period is profoundly anabolic for cortical bone in the established breeder rat. The rapid and dramatic increases in bone formation likely serve to restore bone lost during lactation and to prepare the maternal skeleton for the next reproductive cycle. Anat Rec Part A 276A:143–149, 2004. © 2004 Wiley‐Liss, Inc.
Vitamin A distribution and content in tissues of the lamprey, Lampetra japonica
Authors: Wold Heidi L. , Wake Kenjiro , Higashi Nobuyo , Wang Daren , Kojima Naosuke , Imai Katsuyuki , Blomhoff Rune , Senoo Haruki 
Published: January 2004

AbstractVitamin A (retinol and retinyl ester) distribution and content in tissues of a lamprey (Lampetra japonica) were analyzed by morphological methods, namely, gold chloride staining, fluorescence microscopy to detect specific vitamin A autofluorescence, and electron microscopy, as well as high‐performance liquid chromatography (HPLC). Hepatic stellate cells showed an abundance of vitamin A stored in lipid droplets in their cytoplasm. Similar cells storing vitamin A were present in the intestine, kidney, gill, and heart in both female and male lampreys. Morphological data obtained by gold chloride staining method, fluorescence microscopy, transmission electron microscopy, and HPLC quantification of retinol were consistent. The highest level of total retinol measured by HPLC was found in the intestine. The second and third highest concentrations of vitamin A were found in the liver and the kidney, respectively. These vitamin A‐storing cells were not epithelial cells, but mesoderm‐derived cells. We propose as a hypothesis that these cells belong to the stellate cell system (family) that stores vitamin A and regulates homeostasis of the vitamin in the whole body in the lamprey. Fibroblastic cells in the skin and somatic muscle stored little vitamin A. These results indicate that there is difference in the vitamin A‐storing capacity between the splanchnic and intermediate mesoderm‐derived cells (stellate cells) and somatic and dorsal mesoderm‐derived cells (fibroblasts) in the lamprey. Stellate cells derived from the splanchnic and intermediate mesoderm have high capacity and fibroblasts derived from the somatic and dorsal mesoderm have low capacity for the storage of vitamin A in the lamprey. Anat Rec Part A 276A:134–142, 2004. © 2004 Wiley‐Liss, Inc.