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Biomedical subjects

J M Cheverud

Publications and source records attributed to J M Cheverud.

At least 37 records · Page 2Linked to original sources

Quantitative trait loci for fluctuating asymmetry of discrete skeletal characters in mice.

Levels of fluctuating asymmetry (FA) are often taken as indicators of the degree to which genotypes differ in their ability to buffer genetic and environmental sources of variation. Interval mapping techniques were used to search for quantitative trait loci (QTLs) affecting directional asymmetry (DA) and fluctuating asymmetry (FA) in six bilateral discrete skeletal traits in house mice. These six characters as well as 76 microsatellite markers were scored in over 500 mice that resulted from crosses of F1 mice originally produced from matings of the Large (LG/J) and Small (SM/J) inbred strains. The number of QTLs affecting DA in each of the characters was no more than expected by chance alone so it was concluded that there was little evidence for individual genes affecting DA. There appeared to be a genetical basis for FA in these characters, however, because the number of QTLs significantly affecting FA (10 at the 5% level, three at the 1% level) was greater than expected by chance alone. The 10 QTLs significantly affecting FA in any given character were located on eight different chromosomes, mostly at locations for QTLs affecting other characters or DA in other characters. Their cumulative contribution to the total phenotypic variance was small, averaging only 3.9% per locus. Dominance genotypic values for these QTLs were more extreme than additive genotypic values, suggesting that heterozygotes at many loci are better buffered than homozygotes and that allelic interactions (dominance) may play an important role in the production of FA.

Animals↗

Age of epiphyseal closure in tamarins and marmosets.

Estimates of the chronological age for animals of unknown age provide useful information for medical, demographic, and evolutionary studies. Skeletal development, as indicated by epiphyseal closure, can be used to estimate an animal's chronological age or specify its stage of development. Many studies of Primate skeletal development have used animals of unknown age, with the order of epiphyseal closure providing a relative age for each animal. This study examines the age of epiphyseal closure at 22 epiphyseal sites using animals of known age at death in three calitrichid species (Saguinus fuscicollis, Saguinus oedipus, and Callithrix jacchus). The observed average age of epiphyseal closure is similar in these tamarins and marmosets. There is a significant difference in rate of development between the species. Regression equations can predict the age of unknown animals to within 4.8 months for S. fuscicollis, 8.6 months for S. oedipus, and 7.6 months for C. jacchus (twice the standard error of the estimate). These age estimates allow us to determine if an animal is relatively mature or immature, but are largely unacceptable for studies in which precise age estimates are necessary. The order of epiphyseal closure is similar across 11 monkey species (using additional data from published literature) and supports the suggestion of a general pattern in Primate skeletal development.

Age Determination by Skeleton↗

Interactions between infant growth and survival: evidence for selection on age-specific body weight in captive common marmosets (Callithrix jacchus).

The objective of this study is to investigate factors influencing infant survival in captive common marmosets. We investigated the influence of age-specific weight, litter size, caging, and the presence of helpers on survival to 6 months of age in 189 Callithrix jacchus infants. Infant survival was analyzed using Cox Proportional Hazards regression, and fitness functions were plotted to explore the relationship between survival and growth. Results indicate that weights at birth and 120 days significantly affect future survival probability. Litter size significantly influences survival prior to 60 days of age with larger litters having poorer survival. Males and females did not have significantly different survival and the presence of helpers in the group did not influence survival probability. Patterns of survival with respect to age-specific weights suggest stabilizing selection on birth weight and directional selection on weight at 120 days of age.

Age Factors↗

Precision of surface measurements for below-knee residua.

OBJECTIVE: To determine the absolute and relative precision of geometric measurements made of below knee (BK) residua and their BK plaster positive casts using calipers, electromagnetic digitizer, optical surface scanner (OSS), and spiral x-ray computed tomography (SXCT). DESIGN: The experimental measurement protocol for a single measurement session was as follows: Dot markers were placed on the residuum, and volume and distances were measured using water displacement and calipers; residuum was measured using electromagnetic digitizer; residuum was scanned using three-dimensional (3D) OSS; a negative plaster cast of subject's residuum was made; the residuum was scanned using SXCT scanner. These steps were repeated at a second measurement session. Plaster positive casts were constructed and subsequently measured using the same protocol. PARTICIPANTS: Thirteen adult below-knee amputee volunteers (subjects) participated in the study, and nine subjects returned for a second measurement session. The study group consisted of 9 men and 4 women; 10 Caucasians and 3 African Americans. RESULTS: Distance measurements for all measurement devices were repeatable within 1% in vivo and within 0.5% on plaster casts; and volumes were within 1% in vivo and within 0.1% on plaster casts. Distance measurements for each device were precise within 3% in vivo and within 1% on plaster casts; and volumes were within 5% in vivo and within 6% on plaster casts when compared with caliper and water displacement measures. CONCLUSION: These measurement systems were found to be substantially equivalent in terms of repeatability and precision for measurement of lower extremity residua.

Adult↗

Quantitative trait loci for murine growth.

Body size is an archetypal quantitative trait with variation due to the segregation of many gene loci, each of relatively minor effect, and the environment. We examine the effects of quantitative trait loci (QTLs) on age-specific body weights and growth in the F2 intercross of the LG/J and SM/J strains of inbred mice. Weekly weights (1-10 wk) and 75 microsatellite genotypes were obtained for 535 mice. Interval mapping was used to locate and measure the genotypic effects of QTLs on body weight and growth. QTL effects were detected on 16 of the 19 autosomes with several chromosomes carrying more than one QTL. The number of QTLs for age-specific weights varied from seven at 1 week to 17 at 10 wk. The QTLs were each of relatively minor, subequal effect. QTLs affecting early and late growth were generally distinct, mapping to different chromosomal locations indicating separate genetic and physiological systems for early and later murine growth.

Age Factors↗

Asymmetric vault modification in Hopi crania.

Cradleboarding was practiced by numerous prehistoric and historic populations, including the Hopi. In this group, one result of cradleboarding was bilateral or asymmetric flattening of the posterior occipital. We test whether cradleboarding had significant effects on the morphology of the cranial vault, cranial base, and face. Additionally, we examine associations between direction of flattening and asymmetric craniofacial growth. A skeletal sample of Hopi from the Old Walpi site includes both nonmodified (N = 43) and modified individuals (N = 39). Three-dimensional coordinates of 53 landmarks were obtained using a diagraph. Thirty-six landmarks were used to define nine finite elements in the cranial vault, cranial base, and face. Finite element scaling was used to compare average nonmodified individuals, with averages of bilaterally, right, and left modified individuals. The significance of variation among "treatment" groups was evaluated using a bootstrap test. Pearson product-moment correlations test the association of asymmetry with direction of modification. Hopi cradleboarding has a significant effect on growth of the cranial vault, but does not affect morphology of the cranial base or face. Bilateral flattening of the cranial vault leads to decreased length and increased width of the cranial vault. Flattening of the right or left cranial vault results in ipsilaterally decreased length and width coupled with a corresponding increased length and width on the contralateral side of the cranial vault. There is a significant correlation of size asymmetry with direction of modification in the cranial vault, but not with size or shape change in the cranial base or face.

Adult↗

Polymorphism for PCR-analyzed microsatellites between the inbred mouse strains LG and SM.

Using agarose gel electrophoresis, we surveyed four strains of inbred mice (AKR/J, C57BL/J, LG/J, and SM/J) for 472 microsatellite loci. Agarose electrophoresis proved to be extremely efficient in separating alleles differing by six or more base pairs and detected a majority of allelic differences of between two and six base pairs. Overall, 64.4% of loci showed polymorphism among the four strains, and pairwise comparisons ranged from 42.1% to 48.1%. Microsatellite polymorphism for strains LG/J and SM/J has not been previously described and was sufficiently high (47.1%) to make these size-divergent strains excellent candidates for quantitative trait loci (QTL) analysis of normal growth.

Alleles↗

Epistasis and its contribution to genetic variance components.

We present a new parameterization of physiological epistasis that allows the measurement of epistasis separate from its effects on the interaction (epistatic) genetic variance component. Epistasis is the deviation of two-locus genotypic values from the sum of the contributing single-locus genotypic values. This parameterization leads to statistical tests for epistasis given estimates of two-locus genotypic values such as can be obtained from quantitative trait locus studies. The contributions of epistasis to the additive, dominance and interaction genetic variances are specified. Epistasis can make substantial contributions to each of these variance components. This parameterization of epistasis allows general consideration of the role of epistasis in evolution by defining its contribution to the additive genetic variance.

Animals↗

Anthropometric optical surface imaging system repeatability, precision, and validation.

Disciplines using human body surface dimensions require accurate, repeatable measurements. This study presents a design for the analysis of repeatability, precision, and validation of a new anthropometric device. This model enables estimation of the proportion of the total variation attributable to each level of data collection. This model is applied to an analysis of repeatability, precision, and validation of the Cencit Imaging System, a new optical surface scanner. Twenty-seven facial landmarks were marked on 10 men and 10 women at two measurement sessions. Two images were scanned during each session, and each image was digitized twice. The Cencit Imaging System results were compared with a previously validated digitizer. The Cencit Imaging System was found to produce accurate, highly repeatable images. Much of the error in this study is attributable to human error in marking landmarks on the subjects. The new imaging system will prove useful in a variety of anthropometric applications.

Anthropometry↗

Individual genes underlying quantitative traits: molecular and analytical methods.

Because of innovations in quantitative and molecular genetics, it is becoming possible to study the individual loci affecting quantitative traits, quantitative trait loci (QTL). We review a number of recently developed molecular and analytical techniques that allow the identification and localization of QTL and the quantification of their effects, and present an example. We suggest that this area of investigation, already in widespread use in the agricultural and medical sciences, will become increasingly important in evolutionary biology as techniques continue to improve.

Animals↗

Effect of premature sagittal suture closure on craniofacial morphology in a prehistoric male Hopi.

Scaphocephaly is caused by premature sagittal suture closure. It restricts medial-lateral growth of the cranial vault which appears longer and narrower than normal. We examined how this natural malformation affected morphology of the cranial base and face. A prehistoric adult male Hopi with scaphocephaly was compared to 19 normal male Hopi (Old Walpi Series, Field Museum of Natural History, Chicago, IL). Three-dimensional coordinates of 53 landmarks were recorded on the cranial vault, cranial base, and face. Finite element scaling analysis was used to test for significant differences between the scaphocephalic and normal individuals in craniofacial morphology. Finite element scaling results indicated that scaphocephaly has a profound effect on cranial vault morphology. However, morphology of the cranial base and face were only slightly affected and, typically, are within the normal range of variation for the sample. An abnormality in the cranial base is not associated with scaphocephaly in this individual.

Arizona↗

Cranial deformation and nonmetric trait variation.

Cranial deformation is known to influence many traditional craniometric variables, but its effects on nonmetric trait variation are not well characterized. In this study, we examine the effects of three types of deformation (annular, lambdoid flattening, and fronto-occipital) on nonmetric traits, using a large sample of protohistoric and prehistoric crania. Our results indicate that a few traits are increased or decreased in relative frequency by particular types of deformation, but that these effects have little impact on the calculation of biological distances between groups.

Anthropology, Cultural↗

Effects of annular cranial vault modification on the cranial base and face.

Artificial modification of the cranial vault was practiced by a number of prehistoric and protohistoric populations, frequently during an infant's first year of life. We test the hypothesis that, in addition to its direct effects on the cranial vault, annular cranial vault modification has a significant indirect effect on cranial base and facial morphology. Two skeletal series from the Pacific Northwest Coast, which include both nonmodified and modified crania, were used: the Kwakiutl (62 nonmodified, 45 modified) and Nootka (28 nonmodified, 20 modified). Three-dimensional coordinates of 53 landmarks were obtained using a diagraph, and 36 landmarks were used to define nine finite elements in the cranial vault, cranial base, and face. Finite element scaling was used to compare average nonmodified and average modified crania, and the significance of the results were evaluated using a bootstrap test. Annular modification of the cranial vault produces significant effects on the morphology of the cranial base and face. Annular modification in the Kwakiutl resulted in restrictions of the cranial vault in the medial-lateral and superior-inferior dimensions and an increase in anterior-posterior growth. Similar dimensional changes are observed in the cranial base. The Kwakiutl face is increased anterior-posteriorly and reduced anterior-laterally to posterior-medially. Similar effects of modification are observed in the Nootka cranial vault and cranial base, though not in the face. These results demonstrate the developmental interdependence of the cranial vault, cranial base, and face.

Cephalometry↗

Genetic epidemiology of colon cancer in the cotton-top tamarin (Saguinus oedipus).

Colon cancer is known to be heritable in humans, but the opportunity to investigate the genetic epidemiology of cancer in nonhuman primates has been limited by the size of available populations. The cotton-top tamarin (Saguinus oedipus) colony at the Oak Ridge Associated Universities (ORAU) Marmoset Research Center is a large population with a high rate of spontaneous colon cancer that has been monitored over several years, thus allowing investigation of the genetic basis for colon cancer in this colony. The presence of colon cancer at death was scored in 392 necropsies at the colony. Genealogical and demographic data for these animals were obtained from colony records. The heritability of the liability to colon cancer was estimated using maximum-likelihood-based pedigree analyses after evaluating the effects of gender, origin (wild-born or laboratory-born), and age at death on cancer experience. Cancer rates were not significantly different between males and females or between wild- and laboratory-born animals. Differences in age at death were also statistically insignificant for both laboratory- and wild-born animals. The heritability estimate for the liability to contract colon cancer is 17% for the ORAU cotton-top tamarins. This heritability estimate is not significantly different from zero, indicating no evidence for heritable variation in cancer experience in this population. If genetic factors affect cotton-top tamarin colon cancer, they are fixed or nearly fixed in this population.

Animals↗

Effects of fronto-occipital cranial reshaping on mandibular form.

Cultural reshaping (artificial deformation or modification) of the neurocranial vault provides an artificially increased range of morphological variability within which the relationship between the growing neurocranium and face can be investigated. We analyze crania which have been fronto-occipitally compressed to ascertain possible morphological effects on the mandible. We collected measures of mandibular breadth, length, and height from 82 modified (N = 48) and unmodified (N = 34) crania from a Peruvian Ancon series. Angle classification was also scored in order to investigate whether or not occlusal relationships were affected by neurocranial reshaping. Only intercondylar distance (posterior mandibular breadth) exhibited significant differences between unmodified and modified groups, though this difference was relatively small compared with vault deformation. The modified crania had a higher frequency of normal occlusion (Class I) than the unmodified crania. Increased intercondylar breadth in modified skulls is due to a cascade of effects which begin with a direct effect of the fronto-occipital deforming device on neurocranial shape (increased neurocranial width). The increase in mandibular breadth may be a compensatory response to increased cranial base breadth and maintains articulation between the cranial base and mandible. The increased posterior breadth, coupled with a slight decrease in mandibular depth, may contribute to the change in occlusal relationships suggested for this sample.

Female↗

Effects of fronto-occipital artificial cranial vault modification on the cranial base and face.

Artificial reshaping of the cranial vault has been practiced by many human groups and provides a natural experiment in which the relationships of neurocranial, cranial base, and facial growth can be investigated. We test the hypothesis that fronto-occipital artificial reshaping of the neurocranial vault results in specific changes in the cranial base and face. Fronto-occipital reshaping results from the application of pads or a cradle board which constrains cranial vault growth, limiting growth between the frontal and occipital and allowing compensatory growth of the parietals in a mediolateral direction. Two skeletal series including both normal and artificially modified crania are analyzed, a prehistoric Peruvian Ancon sample (47 normal, 64 modified crania) and a Songish Indian sample from British Columbia (6 normal, 4 modified). Three-dimensional coordinates of 53 landmarks were measured with a diagraph and used to form 9 finite elements as a prelude to finite element scaling analysis. Finite element scaling was used to compare average normal and modified crania and the results were evaluated for statistical significance using a bootstrap test. Fronto-occipitally reshaped Ancon crania are significantly different from normal in the vault, cranial base, and face. The vault is compressed along an anterior-superior to posterior-inferior axis and expanded along a mediolateral axis in modified individuals. The cranial base is wider and shallower in the modified crania and the face is foreshortened and wider with the anterior orbital rim moving inferior and posterior towards the cranial base. The Songish crania display a different modification of the vault and face, indicating that important differences may exist in the morphological effects of fronto-occipital reshaping from one group to another.

British Columbia↗

Systematics of the Saguinus oedipus group of the bare-face tamarins: evidence from facial morphology.

The systematics of the Saguinus oedipus group within the bare-face tamarins remains open to question. Hershkovitz (Living New World Monkeys (Platyrrhini), Vol.1. Chicago: University of Chicago Press, 1977) places the cotton-top and rufus-naped tamarins as subspecies of Saguinus oedipus (S. o. oedipus and S. o. geoffroyi, respectively). In contrast, several other authors have argued that these two taxa should be considered separate species (S. oedipus and S. geoffroyi). Phylogenetic relationships within the group are also disputed. Resolving these different interpretations has been difficult in part because no study of this group has included an objective measure of expected levels of specific vs. subspecific variation. We used facial measurements from 179 adult crania to address the systematics of this group and included a related species that is known to include multiple subspecies. Our sample included three taxa from the S. oedipus group of the bare-face tamarins (S. oedipus, S. geoffroyi, and S. leucopus) and six subspecies from the related hairy-face tamarin species S. fuscicollis. Comparisons to S. leucopus provided a relative measure of species-level differences. Analyses that included S. fuscicollis provided a measure of subspecific variation. There was no evidence of facial sexual dimorphism in any of these taxa. A variety of multivariate statistical analyses including discriminant function and cluster analysis suggest that S. oedipus and S. geoffroyi differ morphologically at a level consistent with species-level distinctions. The extent of differences between these taxa is large. The differences in their facial morphology was on the order of differences between S. oedipus or S. geoffroyi and S. leucopus rather than the extent of variation among S. fuscicollis subspecies. Furthermore, a comparison of collecting localities revealed that the variation we observed among S. oedipus and S. geoffroyi was not clinical but presented a large morphological discontinuity at the boundary between taxa. Our analyses also suggested that S. leucopus is more similar to S. oedipus than is either to S. geoffroyi. Finally, it may be that there are some distinct species within the S. fuscicollis group. However, this hypothesis, along with other phylogenetic relationships suggested by this study, will require more data and further study.

Animals↗

Sexual dimorphism in the baboon facial skeleton.

Baboons exhibit marked sexual dimorphism in many aspects of their morphology. Dimorphism is especially pronounced in the face. We use finite-element analysis to investigate the ontogeny of sexual dimorphism in a cross-sectional sample of baboon (Papio sp.) faces. This method provides detailed quantitative information about size and shape changes at anatomical landmarks in the face during growth. Allometric results suggest that sexual dimorphism in facial size and shape is produced by ontogenetic scaling: males and females share a common ontogenetic trajectory. Analyses of growth in time, which complement allometric analyses, show that female growth slows much earlier than male growth, accounting for the differences between sexes. Local size and local shape follow similar patterns of growth, but changes in these variables are slower in females. Local and global facial size are much more dimorphic than local and global facial shape.

Animals↗