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PubMed1990

Hypothesis for development of a behavioral phenotype in Williams syndrome.

We investigated the natural history of Williams syndrome (WS), including physical characteristics and cognitive, academic language, sensory integration, and adaptive and maladaptive behavior in 32 patients (age 3 to 30 years). These patients were available for psychoeducational testing, parent interview, medical and educational record review, and behavioral observation. Thirty-seven nonlocal individuals (age 8 months to 31 years) were not tested but data on history and development, sensory integration, adaptive and maladaptive behavior were collected resulting in a total sample of 69. The unique constellation of physical manifestations and associated clinical problems in WS contributes to a characteristic behavioral phenotype of 6 factors beginning in infancy with development of salient attachment behaviors. Later a key issue affecting the learning abilities of both the school-aged child and adult with WS was an inadequate development in the use of tools. Theoretical constructs from developmental behavioral genetics, attachment theory, operant conditioning, neuropsychology, and psychosocial theory considered interactively offer explanations for these characteristics.

Abnormalities, Multiple↗
PubMed2005

Fine mapping of a region on chromosome 8p gives evidence for a QTL contributing to individual differences in an anxiety-related personality trait: TPQ harm avoidance.

The chromosome 8p region is of interest in human behavioral genetics since it harbors a susceptibility region not only for schizophrenia but also for anxiety-related personality traits such as harm avoidance and neuroticism. Towards verifying our preliminary linkage finding of a QTL for TPQ harm avoidance at chromosome 8p, we have now genotyped altogether 24 micro-satellite markers in 377 families. Using three methods (maximum likelihood binomial or MLB, MERLIN, and an associated one parameter model), we observed significant results (P values from 0.002 to 0.0004) for linkage to harm avoidance in this region. A peak multipoint LOD score of 2.76 (P value 0.0002) was obtained with the MLB method. The region-wide empirical P value was 0.002 [0.001-0.0046]. Although, the peak position varied somewhat according to the method (D8S1048 for MLB, D8S1463 for the two other methods), for three methods D8S1810 ( approximately 60 cM) is within 1-2 cM of the peak for harm avoidance. This marker is of particular interest since it is proximate (<0.5 cM) of the core haplotype that in several recent studies show significant association with schizophrenia near neuroregulin 1. Although association studies with microsatellite markers need to be interpreted cautiously, using the Haplotype Trend Regression test one marker, D8S499 ( approximately 60 cM), showed an empirical P value of 2 x 10(-5) for allele 3, which confers a decreased harm avoidance score. Altogether, the current linkage and association results suggest the possibility that the same locus near the neuroregulin 1 gene on chromosome 8p confers risk for both an anxiety-related personality trait as well as schizophrenia. We hypothesize that this common genetic factor may contribute to emotional liability during early development, which constitutes a predisposing factor for major psychosis.

Adult↗
PubMed1979

Ontogenetic study of the Miwh gene in mice.

Ontogenetic and adult behavioral tests were conducted on an extreme non-agouti strain of mice carrying the Miwh mutation. Except for startle response, no significant differences were seen in any aspect of the preweaning reflex and neuromuscular tests. The lack of startle response seen in Miwh/Miwh and Miwh/+ mice can be attributed to abnormalities found in the inner ear of these genotypes. Among adult mice, significant differences were found in the open field and visual cliff tests.

Animals↗
PubMed2002

Does environment matter? A review of nonshared environment and eating disorders.

OBJECTIVE: Nonshared environmental influences are experiences that are unique to siblings reared in the same family. We review studies highlighting the importance of nonshared factors for the development of eating disorders and suggest areas for future research. METHODS: Findings from behavioral genetic studies of eating disorders as well as methodological issues are reviewed. RESULTS: Twin studies suggest that approximately 17%-46% of the variance in both anorexia nervosa (AN) and bulimia nervosa (BN) can be accounted for by nonshared environmental factors. Studies directly examining these influences are scarce, although initial data indicate that differential paternal relationships, body weight teasing, peer group experiences, and life events may account for the development of eating pathology in one sibling versus another. DISCUSSION: Additional research is needed to identify specific nonshared environmental influences on eating disorders such as differential parental and sibling treatment, disparate peer group characteristics, and differential experience of life events such as physical and sexual abuse.

Anorexia Nervosa↗
PubMed2003

Distinct chromosomal aberrations in sinonasal mucosal melanoma as detected by comparative genomic hybridization.

Sinonasal mucosal melanomas are the most frequent mucosal melanomas and arise from melanocytes located in the nasal cavity and the paranasal sinuses. The melanoma types, cutaneous melanoma, uveal melanoma, and mucosal melanoma, differ in etiology, geographic distribution, and clinical behavior. Genetic alterations have been previously studied in cutaneous and uveal melanomas but, to the best of our knowledge, not in mucosal melanomas. Comparative genomic hybridization (CGH) was performed on 14 routinely processed sinonasal mucosal melanomas. Furthermore, ploidy analysis was performed on 11 tumors to provide complementary data on the DNA index. The CGH profiles of sinonasal mucosal melanomas show remarkably consistent alterations: chromosome arm 1q is gained in all tumors and gains of 6p and 8q are present in 93 and 57%, respectively. Comparison of CGH data with both the common variants of cutaneous melanoma and uveal melanoma revealed that sinonasal mucosal melanomas harbor a distinct pattern of chromosomal abnormalities. Ploidy analysis also showed that diploid tumors exhibit gains of 1q and alterations of chromosome 6 (3 of 3 cases tested), whereas clear-copy gains and high-copy gains were seen only in triploid and tetraploid tumors (6 of 8 cases tested). This indicates that alteration of chromosomes 1 and 6 may precede polyploidization and formation of clear-copy gains and high-copy gains.

Aged↗
PubMed1987

Molecular organization of the maternal effect region of the Shaker complex of Drosophila: characterization of an I(A) channel transcript with homology to vertebrate Na channel.

We have cloned 215-kb DNA containing the maternal effect region (ME) of the Shaker gene complex (shC) at 16F of the Drosophila X chromosome. Five translocation and deletion breakpoints have been mapped on the cloned DNA allowing a correlation of the genetic map to transcription units. The ME region spans 100 kb. The genetic behavior of this region correlates with the occurrence of maternal RNAs in this part of the ShC. Two transcripts have been identified in the vicinity of chromosomal rearrangements which cause a Sh phenotype. These are a 4.5-kb transcript interrupted by T(x;2)B27 and a 2-kb transcript interrupted by T(X;3)Sh and T(X;Y)W32. The latter transcript is derived from a primary transcript which spans >65 kb genomic DNA. The cDNA-sequencing data show that this Shaker (I(A)channel) gene can encode a protein of 35 kd with three alpha-helical membrane-spanning sequences near its carboxyl terminus. These have a striking homology with membrane-spanning sequences of the vertabrate Na channel.

Journal Article↗
PubMed1984

Recovery of cyclic nucleotide regulation in protein-kinase-defective adrenal cells through somatic cell fusion.

A mutant cell line (designated Kin-8), isolated from the Y1 mouse adrenocortical tumor cell line on the basis of its resistance to growth-inhibition by 8-bromoadenosine 3', 5'-monophosphate (8BrcAMP), was resistant to the steroidogenic effects of the cyclic nucleotide analog and did not round up in the presence of 8BrcAMP as did responsive Y1 adrenal cells. In Kin-8 cells, the mutation to cyclic nucleotide resistance was associated with a defective type 1 cAMP-dependent protein kinase activity, suggesting an obligatory role for the enzyme in the regulation of these adrenal functions. In this study, the Kin-8 mutant was fused with a rat glioma cell line (C6) in order to analyze the genetic behavior of the protein kinase mutation in somatic cell hybrids. The growth of C6 glial cells was inhibited by 8BrcAMP and its cAMP-dependent protein kinase responded normally to cAMP. In addition, C6 cells had no capacity for steroidogenesis nor did they round up when treated with 8BrcAMP. In Kin-8 X C6 hybrids, the protein kinase mutation seemed to behave recessively. The growth of hybrid cells was inhibited by 8BrcAMP and the protein kinase responded to cAMP over a normal range. Kin-8 X C6 hybrids, when treated with 8BrcAMP, exhibited steroidogenic activities which were greater than the activity measured in either fusion partner and which had lower ED50 values for 8BrcAMP. In addition, Kin-8 X C6 hybrids rounded up in the presence of 8BrcAMP, a morphologic change unlike that seen with either fusion partner. The effects of 8BrcAMP on the steroidogenic activity and morphology of Kin-8 X C6 hybrids was reminiscent of the effects of the cyclic nucleotide on cAMP-responsive, parental Y1 adrenal cells. These results suggest that cell fusion provided a normal cAMP-dependent protein kinase for Kin-8 cells and led to the recovery of a cAMP-responsive adrenal phenotype. type. These results provide additional evidence in support of an obligatory role for cAMP-dependent protein kinase in the regulation of adrenal steroidogenesis, cell division, and cell shape.

8-Bromo Cyclic Adenosine Monophosphate↗
PubMed2002

Organization of the nervous system in the pygmy cuttlefish, Idiosepius paradoxus ortmann (Idiosepiidae, Cephalopoda).

The idiosepiid cuttlefish is a suitable organism for behavioral, genetic, and developmental studies. As morphological bases for these studies, organization of the nervous system was examined in Idiosepius paradoxus Ortmann, 1881, using Cajal's silver technique and immunohistochemical staining with anti-acetylated alpha-tubulin antibody. The nervous architecture is generally identical to that described in Sepia and Loligo, but some features characterize the idiosepiid nervous system. The olfactory system is highly developed in the optic tract region. The dorsolateral lobes show large neuropils, connected with each other by a novel well-fasciculated commissure. Each olfactory lobe is subdivided into two lobules. The neuropils of the anterior and the posterior chromatophore lobes are very poorly developed. Neuronal gigantism is not extensive in the brain; enlarged neuronal cells are visible only in the perikaryal layer of the posterior subesophageal mass. The giant nerve fiber system is of the Sepia type; the axons are not markedly thick and the first-order giant fibers do not fuse with each other at the chiasma. Three-dimensional images by whole-mount immunostaining clarified the innervation pattern in the peripheral nervous system in detail. Two commissural fibers link the left and right posterior funnel nerves ventrally and dorsally. The stellate commissure, which is absent in Sepia and Sepiola, connects the stellate ganglia with each other. A branch of the visceral nerve innervating the median pallial adductor muscle is characteristically thick. Tubulinergic reactivity of the cilia and axons reveals the presence of many ciliated cells giving off an axon toward brain nerves in the surface of the funnel, head integument, arm tips, and epidermal lines. Some of these features seem to reflect the inactive nekto-benthic life of the idiosepiid cuttlefish in the eelgrass bed.

Animals↗
PubMed1996

Population and behaviour genetics of Drosophila ananassae.

Drosophila ananassae is a cosmopolitan and domestic species. It occupies a unique status among the Drosophila species due to certain peculiarities in its genetic behaviour. The most unusual feature of this species is spontaneous male recombination in appreciable frequency. The present review summarizes the work done on population and behaviour genetics of D. ananassae from India. Population dynamics of three cosmopolitan inversions has been studied in Indian populations of D. ananassae and it is evident from the results that there is a considerable degree of genetic divergence at the level of inversion polymorphism. In general, the populations from south India show more differentiation than those from the north. These three cosmopolitan inversions, which are coextensive with the species, exhibit heterosis. Interracial hybridization does not lead to breakdown of heterosis, which suggests that evidence for coadaptation is lacking in geographic populations of D. ananassae. Heterosis appears to be simple luxuriance rather than populational heterosis (coadaptation). Unlinked inversions occur in random associations, indicating no interchromosomal interactions. However, two inversions of the third chromosome often show strong linkage disequilibrium in laboratory populations, which is due to epistatic gene interaction and suppression of crossing-over. Genetic variations for certain allozyme polymorphism and sternopleural bristle phenotypes in Indian populations of D. ananassae have also been observed. A number of investigations have also been carried out on certain aspects of behaviour genetics of Indian D. ananassae. There is evidence for sexual isolation within D. ananassae. Significant variations in mating propensity of several isofemale strains, inversion karyotypes, the diminishing effects of certain mutations on sexual activity of males and positive response to selection for high and low mating propensity provide evidence for genetic control of sexual behaviour in D. ananassae. Males contribute more to variation and thus are more subject to intra-sexual selection than females. Evidence for rare male mating advantage has also been presented. Geographic strains of D. ananassae show variation with respect to oviposition site preference. The results of studies on pupation site preference, which is an important component of larval behaviour, suggest that larval pupation behaviour in D. ananassae is under polygenic control with a substantial amount of additive genetic variation.

Animals↗
PubMed1981

Heterogeneity of human chromosome 9 constitutive heterochromatin as revealed by sequential distamycin A/DAPI staining and C-banding.

Distamycin A/DAPI staining and sequential C-banding of human lymphocyte chromosomes reveals the regular occurrence of differentially staining subfractions of chromosome 9 constitutive heterochromatin. These subfractions are regionally organized as two subsegments: a distal one, which fluoresces brightly with DAPI after preincubation with distamycin A and a proximal one, which stains intensely with Giemsa after sequential C-banding. Observations are presented that indicate an occasionally independent genetic behavior of these heterochromatin subfractions.

Amidines↗
PubMed1982

Selective breeding for diisopropyl fluorophosphate-sensitivity: behavioural effects of cholinergic agonists and antagonists.

The behavioral effects of cholinergic agonists and antagonists were examined in two lines of rats which have been developed through selective breeding techniques to be differentially sensitive to the anticholinesterase diisopropyl fluorophosphate (DFP). The line of rats which were determined to be more sensitive to DFP (Flinders S line) were also more sensitive to the depressant effects of the agonists pilocarpine and physostigmine on locomotor activity, water intake, and operant responding maintained by water reward. In contrast, the locomotor stimulant effects of scopolamine, a muscarinic antagonist, were less marked in the S-line rats, while the depressant effects of atropine and scopolamine on water intake and operant responding maintained by water reward were comparable in the two lines. The S-line rats were also significantly more sensitive to the hypothermic effects of pilocarpine and oxotremorine. These findings are consistent with the hypothesis that the S-line rats are more sensitive to the acute effects of DFP because they have a higher number of muscarinic-cholinergic receptors.

Animals↗
PubMed1981

Personality attributes of males and females marrying within vs. across racial/ethnic groups.

As part of a larger study, Adjective Check List scores were obtained from 543 couples in Hawaii who had married within their own ethnic group and 83 who had not. Females who married across ethnic groups generally scored higher in one domain of personality (dominance) than did females who married within their own ethnic group. Males who married cross-ethnically also differed in dominance from those who did not, but in different directions in different ethnic groups. In the group that had the highest status (Caucasian) in the decades in which these subjects married, they were less dominant; in the other groups, to varying degrees, they were more dominant. In general, males and females in cross-ethnic matings were more similar in personality test scores than males and females who married within their own ethnic groups. Spouse correlations were generally positive but trivial in magnitude, with very little difference in personality between homogamous and heterogamous couples. The average difference in personality between those who married within and outside their own ethnic group was associated with the rarity of outmarriage for the sex and ethnic group concerned.

Cross-Cultural Comparison↗