Although it is well known that many mutations influence phenotypic variability as well as the mean, the underlying mechanisms for variability effects are very poorly understood. The brachymorph (bm) phenotype results from an autosomal recessive mutation in the phosphoadenosine-phosphosulfate synthetase 2 gene (Papps2). A major cranial manifestation is a dramatic reduction in the growth of the chondrocranium which results from undersulfation of glycosaminoglycans (GAGs) in the cartilage matrix. We found that this reduction in the growth of the chondrocranium is associated with an altered pattern of craniofacial shape variation, a significant increase in phenotypic variance and a dramatic increase in morphological integration for craniofacial shape. Both effects are largest in the basicranium. The altered variation pattern indicates that the mutation produces developmental influences on shape that are not present in the wildtype. As the mutation dramatically reduces sulfation of GAGs, we infer that this influence is variation among individuals in the degree of sulfation, or variable expressivity of the mutation. This variation may be because of genetic variation at other loci that influence sulfation, environmental effects, or intrinsic effects. We infer that chondrocranial development exhibits greater sensitivity to variation in the sulfation of chondroitin sulfate when the degree of sulfation is low. At normal levels, sulfation probably contributes minimally to phenotypic variation. This case illustrates canalization in a particular developmental-genetic context.
The tarsal joint is a common site of injury for many sport horses. Understanding the biomechanics of this complex joint begins with developing a clear picture of the kinematics during normal locomotion. This study describes the 3D kinematics of the tarsal joint by measuring the motion of the tibia and third metatarsus in 4 sound Quarter Horses with targets attached directly to the bones via steel pins. The objective was to determine if the tarsus had significant motion outside the tarsocrural joint. Two Steinmann pins were inserted into the lateral side of the right hindlimb and marker triads were fixed to the end of each pin. 3D motion of the bones was recorded as each subject trotted in hand. Three rotations were expressed using an attitude vector based on the finite helical angle method. Three translations were calculated as the motion of the tibia relative to the third metatarsus. Angular and translation data were mostly coupled with flexion angle. Internal/external rotation during stance and translations during swing showed evidence of noncoupled motion. Although the majority of tarsal motion occurs in the tarsocrural joint, there is evidence that translations and rotations occur in other locations within the tarsal joint and that some of these are related to the tarsal joint 'snapping' phenomenon. This research provides a set of reference 3D kinematics which will aid in the study of the aetiology and mechanical effects of tarsal joint lameness.
ABSTRACT:We have demonstrated previously that chondral damage is associated with increased knee surface velocities following ligament and meniscus injuries in sheep. We tested the hypothesis that cartilage damage scores would correlate with a new bone surface interaction measure that captures complex changes in tibiofemoral alignment, "proximity disturbance" (PD). Six sheep underwent combined anterior cruciate and medial collateral ligament transection (ACL/MCLx), five complete lateral meniscectomy (Mx), and four sham arthrotomy (Sham). Tibiofemoral subchondral bone surfaces were modeled, and the post-operative changes in relative separation of the surfaces (i.e., "proximity") were derived from subject-specific in vivo 3D stifle kinematics. Surface areas of regions of near contact were determined, and PD was calculated as the range of change in tibiofemoral proximity, divided by normalized overlapping proximity surface areas between baseline and post-operative time points. Cartilage morphology was graded at dissection. ACL/MCLx PD was significantly elevated relative to Mx and Shams, and correlated with cartilage damage (r 2 ¼ 0.88-0.98). Although not statistically significant, Mx PD values tended to be higher than those of Shams, and correlated with cartilage damage. Results from both injury models suggest that increasing change in tibiofemoral surface alignment may be increasingly deleterious to long-term cartilage health in sheep. ß
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