Distributed representation of social odors indicates parallel processing in the antennal lobe of ants

In colonies of eusocial Hymenoptera cooperation is organized through social odors, and particularly ants rely on a sophisticated odor communication system. Neuronal information about odors is represented in spatial activity patterns in the primary olfactory neuropile of the insect brain, the antennal lobe (AL), which is analog to the vertebrate olfactory bulb. The olfactory system is characterized by neuroanatomical compartmentalization, yet the functional significance of this organization is unclear. Using two-photon calcium imaging, we investigated the neuronal representation of multicomponent colony odors, which the ants assess to discriminate friends (nestmates) from foes (nonnestmates). In the carpenter ant Camponotus floridanus, colony odors elicited spatial activity patterns distributed across different AL compartments. Activity patterns in response to nestmate and nonnestmate colony odors were overlapping. This was expected since both consist of the same components at differing ratios. Colony odors change over time and the nervous system has to constantly adjust for this (template reformation). Measured activity patterns were variable, and variability was higher in response to repeated nestmate than to repeated nonnestmate colony odor stimulation. Variable activity patterns may indicate neuronal plasticity within the olfactory system, which is necessary for template reformation. Our results indicate that information about colony odors is processed in parallel in different neuroanatomical compartments, using the computational power of the whole AL network. Parallel processing might be advantageous, allowing reliable discrimination of highly complex social odors.     

Genetics of obstetrical variables. A study from the collaborative perinatal project

Several obstetric variables were examined for genetic correlation in data from more than 8200 women (roughly 60 % black and 40 % white) linked into about 3200 family groups by birth or marriage and registered in the Collaborative Perinatal Project. Sister-in-law pairs yielded estimates of non-genetic and spurious correlations which were generally absent or low. Pairs of sisters, mothers and daughters, half sisters, first cousins, and aunts and nieces were compared; such relatives were also compared in certain combinations of three. Familial correlation was present for age at menarche and durations of stages 1 and 3 of labor. None was found for gestation time of livebirths or for stage 2 of labor. A significant sister correlation for diagonal conjugate (size of pelvic inlet) was apparent in the white, but not the black, sample. No families had two or more occurrences of the infrequent conditions: thrombosis, infertility diagnosis, incompetent cervix, leiomyoma, hyperemesis gravidarum, hydramnios, placenta praevia, or prolapsed cord. Familial correlation was significant for fetal death risk, but not for bleeding during pregnancy, abnormal presentation of the fetus, abruptio placentae, breast abnormalities and hypertension. Familial associations for anemia, postpartum hemorrhage, varicose veins and albuminuria were significant in the black data, but not in the smaller white sample. There was a positive, but non-significant, association of toxemia in sisters.     

Evolution of consanguinity in the Bishopric of Lugo (Spain) from 1900 to 1979

Background: The levels of consanguinity in human populations are known to be influenced by demographic and geographical factors, and by socio-cultural customs that govern spouse choice. Within the general model applicable to the populations of Western Europe, Galicia (north-west Spain) is a region that is especially interesting, due to its geographical and historical peculiarities that could have conditioned its behaviour pattern with respect to consanguinity.

Primary objective: The object of this paper is to analyse the evolution of the consanguinity structure levels in the rural population of the Bishopric of Lugo (Galicia) during the period 1900-1979.

Subjects and methods: The study covers a total of 752 parishes included in 52 municipalities of the rural area of the Bishopric of Lugo. Of a total of 117 583 marriages in the period studied, 6701 were between biologically related individuals up to the level of second cousins. The percentage of the different types of consanguineous marriages, the consanguinity rates, and the average coefficient of inbreeding of the population was calculated. Also, for the analysis of the temporal variation of consanguinity, version 3.01 of Jandel Scientific's Table Curve program was used.

Main outcomes and results: The consanguinity rate for the whole of the period is 5.70% and the average coefficient of inbreeding is 2.2477 × 10^?3, values which fall within the observed range for Spanish populations. As for the consanguinity structure, the most frequent types of consanguineous marriages are between second cousins (2.65% of all marriages), but the high proportion of marriages between uncles/nieces or aunts/nephews (0.16%) and first cousins (2.12%) with regard to the total number of marriages should be emphasized. The average value of the M22/M33 ratio is 0.80, and throughout the study period it was above the 0.25 expected in conditions of panmixia. Regarding the evolution of the average coefficient of inbreeding, its annual values fit a polynomial regression curve with one ascending and one descending branch and an inflection point in the year 1919.

Conclusions: As in other rural areas of Galicia, the structure of consanguinity in the Bishopric of Lugo is characterized by the high proportion of marriages between uncles/nieces or aunts/nephews and first cousins, a phenomenon which appears to be generalized in the rural populations of northern Spain. It is suggested that the high proportion of uncle/niece marriages that have been found in the population studied are very probably due to the important migratory phenomenon which took place in this region at the end of the 19th century and in the first third of the 20th century.     

Evolution of consanguinity in the Bishopric of Lugo (Spain) from 1900 to 1979

BACKGROUND: The levels of consanguinity in human populations are known to be influenced by demographic and geographical factors, and by socio-cultural customs that govern spouse choice. Within the general model applicable to the populations of Western Europe, Galicia (north-west Spain) is a region that is especially interesting, due to its geographical and historical peculiarities that could have conditioned its behaviour pattern with respect to consanguinity. PRIMARY OBJECTIVE: The object of this paper is to analyse the evolution of the consanguinity structure levels in the rural population of the Bishopric of Lugo (Galicia) during the period 1900-1979. SUBJECTS AND METHODS: The study covers a total of 752 parishes included in 52 municipalities of the rural area of the Bishopric of Lugo. Of a total of 117,583 marriages in the period studied, 6701 were between biologically related individuals up to the level of second cousins. The percentage of the different types of consanguineous marriages, the consanguinity rates, and the average coefficient of inbreeding of the population was calculated. Also, for the analysis of the temporal variation of consanguinity, version 3.01 of Jandel Scientific's Table Curve program was used. MAIN OUTCOMES AND RESULTS: The consanguinity rate for the whole of the period is 5.70% and the average coefficient of inbreeding is 2.2477 x 10(-3), values which fall within the observed range for Spanish populations. As for the consanguinity structure, the most frequent types of consanguineous marriages are between second cousins (2.65% of all marriages), but the high proportion of marriages between uncles/nieces or aunts/nephews (0.16%) and first cousins (2.12%) with regard to the total number of marriages should be emphasized. The average value of the M22/M33 ratio is 0.80, and throughout the study period it was above the 0.25 expected in conditions of panmixia. Regarding the evolution of the average coefficient of inbreeding, its annual values fit a polynomial regression curve with one ascending and one descending branch and an inflection point in the year 1919. CONCLUSIONS: As in other rural areas of Galicia, the structure of consanguinity in the Bishopric of Lugo is characterized by the high proportion of marriages between uncles/nieces or aunts/nephews and first cousins, a phenomenon which appears to be generalized in the rural populations of northern Spain. It is suggested that the high proportion of uncle/niece marriages that have been found in the population studied are very probably due to the important migratory phenomenon which took place in this region at the end of the 19th century and in the first third of the 20th century.     

Twin carriers of X‐linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene

We report on an X‐linked agammaglobulinemia (XLA) family in which mothers of two affected cousins were monozygotic twins. We analyzed the Btk gene of several members in three generations of the family by SSCP analysis, DNA sequencing, and RFLP analysis following polymerase chain reaction‐amplification of the individual exons. We identified a missense point mutation, G1817C (R562P), in exon 17 of the Btk gene in the affected cousins. The same mutation was also present in both mothers (twin sisters) of the cousins identifying them as carriers. However, the mutation was absent in all other relatives including the grandmother of the cousins (mother of the twin sisters). This strongly suggests that the mutation in the Btk gene had originated in one of the germ lines or in the zygote. This may be the first demonstration of a germ line (or zygotic) mutation in XLA. Am. J. Med. Genet. 90:229–232, 2000. © 2000 Wiley‐Liss, Inc.     

Development and familiality of sexual orientation in females

The development and familial clustering of sexual orientation were studied in 358 heterosexual, bisexual, and homosexual women. Sexual orientation, as measured by the Kinsey scales, was diverse yet showed statistical congruity and stability over a 1- to 1.5-year time span. Developmental patterns, as measured by retrospective reports on the ages of first sexual or romantic attraction and of self-acknowledgment of sexual orientation, were very similar in the heterosexual and lesbian subjects except for the difference in object choice. The bisexual subjects displayed intermediate patterns that were more similar to the heterosexuals' on most facets yet closer to the lesbian subjects' on other dimensions. Familial clustering of nonheterosexual orientation was significant. Using two criteria, elevated rates of nonheterosexuality were found in four classes of relatives: sisters, daughters, nieces, and female cousins through a paternal uncle. The current data are not sufficient to distinguish between genetic and shared environmental sources of this familial aggregation. We discuss the possibility of using developmental criteria to differentiate between inherited and cultural sources of variation in female sexual orientation.     

Kin recognition in the sweat bee,Lasioglossum zephyrum

Recognition of kin in sweat bees is dependent upon social learning. Shortly after emergence as adults, bees learn the odors of nestmates, normally relatives, and use this knowledge to keep nonnestmate (and therefore nonkin) bees out. The odors are heritable so that once a bee learns the odors of its kin, it can recognize other kin that it has never met before. An individual guard bee does not seem to use knowledge of self as a reference. Larval learning of odors, common rearing of offspring, maternal inheritance, and inbreeding effects are not sufficient to explain the recognition of unfamiliar relatives. Individual guard bees can discriminate between close and distant relatives. Kin recognition may be a secondary or serendipitous use of odors that originally evolved for the recognition of mates and nest entrances.This work was supported by NSF Grant BNS 82-00651 (C. D. Michener, principal investigator).     

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

Two severely mentally retarded brothers are described who had a similar facial appearance, cataracts, short stature, minor digital abnormalities, and primary hypogonadism. Their parents were first cousins. Numerous laboratory investigations failed to elucidate a basic metabolic cause for their disorder.     

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

Consanguineous marriages have been widely practiced in several global communities with varying rates depending on religion, culture, and geography. In consanguineous marriages, parents pass to their children autozygous segments known as homozygous by descent segments. In this study, single-nucleotide polymorphisms were analyzed in 165 unrelated Lebanese people from Greek Orthodox, Maronite, Shiite and Sunni communities. Runs of homozygosity, total inbreeding levels, remote consanguinity, and population admixture and structure were estimated. The inbreeding coefficient value was estimated to be 1.61% in offspring of unrelated parents over three generations and 8.33% in offspring of first cousins. From these values, remote consanguinity values, resulting from genetic drift or recurrent consanguineous unions, were estimated in offspring of unrelated and first-cousin parents to be 0.61 and 1.2%, respectively. This remote consanguinity value suggests that for any unrelated marriages in Lebanon, the mates could be related as third cousins or as second cousins once removed. Under the assumption that 25% of marriages occur between first cousins, the mean inbreeding value of 2.3% may explain the increased incidence of recessive disease in offspring. Our analysis reveals a common ancestral population in the four Lebanese communities we studied.     

Family communication about positive BRCA1 and BRCA2 genetic test results.

PURPOSE: The identification of a BRCA1 or BRCA2 genetic mutation can provide important health information to individuals who receive this result, but it can also provide crucial cancer risk information to family members. Most of the research on communication of genetic test results has focused on first degree relatives. The purpose of this retrospective study was to examine the process of communicating a positive BRCA1 or BRCA2 genetic test result to male and female first, second, and third degree relatives. METHODS: Participants were 38 female mutation carriers who responded to a written survey assessing the number and relationship of relatives informed, methods used to inform relatives, topics discussed, and motivations and barriers for communication. RESULTS: Overall, 59% (470/803) of first, second, and third degree relatives were informed. The proportion of informed parents, siblings, and offspring was nearly twice that of more distant relatives including nieces, nephews, aunts, uncles, grandchildren, and cousins (88% versus 45%; P = 0.02). The method of communication differed by the gender of the relative, as did some of the topics discussed. The most important reasons for discussing the genetic test results were (1) to inform the relatives of their risk, (2) to suggest that they be tested, and (3) to fulfill a perceived duty to inform. The major barrier to communication was little contact and/or emotionally distant relationships. CONCLUSION: Female mutation carriers act on a perceived duty to inform close relatives of their positive test result; however, there is a need for genetic counseling strategies that address communication with more distant relatives.     

The ontogeny of kin discrimination cues in the honey bee,Apis mellifera

Cues used in the discrimination of relatives from nonrelatives by the honey bee reflect both genetic and environmental differences between groups. Discrimination is behaviorally expressed by acceptance into or agonistic rejection from the social group. We examine the development of these cues in field colonies and in controlled laboratory settings. Newly emerged worker honey bees are accepted by honey bee social groups at a high frequency. When bees are kept in a controlled laboratory environment for 5 days, acceptability into laboratory groups is determined largely by relatedness. Cues indicating relatedness develop in the laboratory within 12 h after the adult bee emerges. Bees older than 12 h are not accepted by field colonies regardless of relatedness. Bees maintained in a hive until 5 days after emergence are not accepted by related or unrelated laboratory groups (this is termed the hive effect). Bees maintained in hives for times as short as 5 h acquired the hive effect. In a cross-fostering experiment, the hive effect completely masked genetic differences.This work was supported by NSF Grants BNS 82-16787 and BNS 86-05604.     

Effects of inbreeding on Raven Matrices

Indian Muslim school boys, ages 13 to 15 years, whose parents are first cousins, were compared with classmates whose parents are genitically unrelated on the Raven Standard Progressive Matrices, a nonverbal test of intelligence. The inbred group (N=86) scored significantly lower and had significantly greater variance than the noninbred group (N=100), both on raw scores and on scores statistically adjusted to control for age and socioeconomic status. Genetic theory predicts both of these effects for a polygenic trait with positive directional dominance.     

Craniosynostosis,ectopia lentis,and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance

The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling. © 2001 Wiley‐Liss, Inc.     

A probable monogenic form of polyostotic fibrous dysplasia

A 37 year-old female patient with polyostotic fibrous dysplasia (PFD) is described. She presented the typical "café au lait" spots and severe bone involvement including a maxillary osteosarcoma. The father, four sibs, two nephews, two paternal aunts and two paternal first cousins were clinically examined, and seven of them also radiologically evaluated. "Café au lait" spots were found in the father, three sibs, one nephew, one aunt and one first cousin. Although no definite PFD bone lesions, mild radiological abnormalities were found in the father, three sibs and one nephew. These findings were interpreted as the variable expression of a pleiotropic gene. The present observation and three previous familial cases of this entity strongly suggest the existence of a form of PFD determined by an autosomal dominant gene.     

X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.

We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had prominent glabella, synophrys, prognathism, generalized hirsutism, and bilateral single palmar creases. All developed seizures in childhood. The two oldest have had a slow deterioration in neurological status with poor gait and balance and progressive weakness. No deterioration in their mental status has been observed. The oldest had cerebellar atrophy confirmed on computed tomography and magnetic resonance imaging scans of the brain and prolonged nerve conduction velocity. Two of the males had hypogammaglobulinemia (IgA deficient). Two-point linkage analysis using 27 microsatellite markers on the X chromosome resulted in a maximum LOD score of 2.23 at straight theta = 0 for locus DSX101. Recombination was observed at locus DSX1170 in Xq21.33 and locus DXS8067 in Xq23. We conclude that this family represents an X-linked disorder associated with a recognizable phenotype, progressive neurological deterioration, and variable hypogammaglobulinemia. The gene appears to lie between Xq21.33 and Xq23.     

Balance and gait in children with dyslexia

Tests of postural stability have provided some evidence of a link between deficits in gross motor skills and developmental dyslexia. The ordinal-level scales used previously, however, have limited measurement sensitivity, and no studies have investigated motor performance during walking in participants with dyslexia. The purpose of this study was to investigate if continuous-scaled measures of standing balance and gait could discriminate between groups of impaired and normal readers when investigators were blind to group membership during testing. Children with dyslexia (n=22) and controls (n=18), aged 10–12 years, performed walking tests at four different speeds (slow–preferred–fast–very fast) on an even and an uneven surface, and tests of unperturbed and perturbed body sway during standing. Body movements were registered by a triaxial accelerometer over the lower trunk, and measures of reaction time, body sway, walking speed, step length and cadence were calculated. Results were controlled for gender differences. Tests of standing balance with eyes closed did not discriminate between groups. All unperturbed standing tests with eyes open showed significant group differences (P<0.05) and classified correctly 70–77.5% of the subjects into their respective groups. Mean walking speed during very fast walking on both flat and uneven surface was ≥0.2 m/s (P≤0.01) faster for controls than for the group with dyslexia. This test classified 77.5% and 85% of the subjects correctly on flat and uneven surface, respectively. Cadence at preferred or very fast speed did not differ statistically between groups, but revealed significant group differences when all subjects were compared at a normalised walking speed (P≤0.04). Very fast walking speed as well as cadence at a normalised speed discriminated better between groups when subjects were walking on an uneven surface compared to a flat floor. Continuous-scaled walking tests performed in field settings may be suitable for motor skill assessment as a component of a screening tool for developmental dyslexia. Electronic Publication     

Capping of lymphocytes in patients and carriers of duchenne muscular dystrophy

Summary Recent results showed that Duchenne muscular dystrophy is probably associated with a generalized membrane defect. The capping phenomenon in lymphocytes indicates normal intramembrane protein mobility and disturbances of this phenomenon are is believed to reflect membrane alterations. We have investigated capping in lymphocytes from 19 patients with Duchenne muscular dystrophy, 13 carriers, 8 patients' sisters, 14 patients' aunts and 52 normal controls. All 19 patients showed a reduction in capping both with fluorescein conjugated polyvalent goat antiserum (mean±SD=18.5±5.2%) and with fluorescein labeled Concanavalin A (mean±SD=10.8±3.2%) as compared to controls. Normal persons (n=52) have a mean of 50.2±9.9% (SD) capping with polyvalent anti-immunoglobulin (range: 32–72.5%) and 25.6±3.6% with F-Con A (range: 18.5–31.5%). 12 of the 13 mothers, as well as 5 of the 8 patients' sisters, also exhibited decreased lymphocyte capping to the same extent as the patients. Creatine kinase activity (CK) was elevated only in 4 mothers and 2 of the sisters. Our results indicate that this method might be of value in detecting carriers and can yield less false negative results as the CK-activity test.Supported in part by Karl- und Maria-Biesinger-Stiftung, Hirschhorn, FRG, and Tumorzentrum Heidelberg/Mannheim, FRG     

Infants' visual-proprioceptive intermodal perception with imperfect contingency information

Two experiments explored 5-month-old infants' recognition of self-movement in the context of imperfect contingencies between felt and seen movement. Previous work has shown that infants can discriminate a display of another child's movements from an on-line video display of their own movements, even when featural information is removed. These earlier findings were extended by demonstrating self versus other discrimination when the visual information for movement was an unrelated object (a fluorescent mobile) directly attached to the child's leg, thus producing imperfect spatial and temporal contingency information. In contrast, intermodal recognition failed when the mobile was indirectly attached to infants' legs, thus eliminating spatial contingencies altogether and further weakening temporal contingencies. Together, these studies reveal that even imperfect contingency information can drive intermodal perception, given appropriate levels of spatial and temporal contingency information.     

A three generation family study of cleft lip with or without cleft palate.

A family study of cleft lip, with or without cleft palate, was based on those treated by operation at The Hospital for Sick Children, London, between 1920 and 1939 in order to give information on the proportion affected of children and grandchildren. The probands were those who had survived, were successfully traced, and found to have had at least one child. Care was taken to exclude patients who were traced through a child, whether normal or affected, and not through the usual tracing procedure. Patients with recognised syndromes were also excluded. Because the series was based on patients who had survived and reproduced it was biased in favour of those with milder degrees of the malformation, and against those with any severe associated malformation. The proportion affected of children of probands was 3.15% (+/- 0.56), of sibs 2.79% (+/- 0.52), and of parents 1.18% (+/- 0.37), respectively. The lower proportion of parents affected is attributed to reduced reproductive fitness of patients born two generations ago. The proportion affected of nephews and nieces, aunts and uncles, and grandchildren was 0.47% (+/- 0.18), 0.59% (+/- 0.13), and 0.8% (+/- 0.6) respectively. The proportion affected of first cousins was 0.27% (+/- 0.08). The birth frequency of cleft lip (+/- cleft palate) is estimated to be about 0.1% in England. There were two first cousin and one second cousin marriages among the marriages of the parents. There was no increase of cleft palate among the relatives of the probands. The proportion of sibs affected increased with increasing severity of the malformation in the proband, where the proband was female, and where the proband had an affected parent or already had one affected sib. It was not, however, increased where a more remote relative was affected. The proportion of children affected was not increased when the proband had an affected parent or sib, but few families provided information. The most economical hypothesis to explain the findings is the multifactorial threshold model. The birth frequency of the malformation and the family patterns found make it improbable that one single mutant gene makes a major contribution to the liability to develop the condition.     

The ontogeny of sibling recognition in rodents: Superfamily muroidea

A brief review of the relevant literature indicates that familiarization is the primary (and possibly sole) proximate mechanism mediating the development of sibling recognition in muroid rodents. Littermates that are raised together are discriminated from unfamiliar agemates. Previously unencountered kin may be recognized through their resemblance to familiar relatives (a process ofindirect familiarization). A recent experiment with spiny mice reveals that phenotypic similarity among full siblings can be discerned by other conspecifics, even those that are not their kin. Olfactory signatures involved in social recognition are the product of a complex interaction between genotypic and environmental components.Preparation of this paper was supported in part by National Institute of Child Health and Human Development Grant HD-15051.