Fisher, A. | Search bioRxiv

bioRxiv2018

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance. We reported seven heterozygous protein-coding mutations in 8 of the 23 kindreds studied, including 6 of the 8 multiplex kindreds. We have since enrolled 33 new kindreds, 5 of which are multiplex. We describe here eleven new heterozygous ICA-causing RPSA protein-coding mutations, and the first two mutations in the 5-UTR of this gene, which disrupt mRNA splicing. Overall, 40 of the 73 ICA patients (55%) and 23 of the 56 kindreds (41%) carry mutations located in translated or untranslated exons of RPSA. Eleven of the 43 kindreds affected by sporadic disease (26%) carry RPSA mutations, whereas 12 of the 13 multiplex kindreds (92%) carry RPSA mutations. We also report that six of eighteen (33%) protein-coding mutations and the two (100%) 5-UTR mutations display incomplete penetrance. Three mutations were identified in 2 independent kindreds, due to a hotspot or a founder effect. Lastly, RPSA ICA-causing mutations were demonstrated to be de novo in 7 of the 23 probands. Mutations in RPSA exons can affect the translated or untranslated regions and can underlie ICA with complete or incomplete penetrance.

genetics↗

bioRxiv2018

Gap perception in bumblebees

A number of insects fly over long distances below the natural canopy where the physical environment is highly cluttered consisting of obstacles of varying shape, size and texture. While navigating within such environments animals need to perceive and disambiguate environmental features that might obstruct their flight. The most elemental aspect of aerial navigation through such environments is gap identification and passability evaluation. We used bumblebees to seek insights into the mechanisms used for gap identification when confronted with an obstacle in their flight path and behavioral compensations employed to assess gap properties. Initially, bumblebee foragers were trained to fly though an unobstructed flight tunnel that led to a foraging chamber. After the bees were familiar with this situation, we placed a wall containing a gap that unexpectedly obstructed the flight path on a return trip to the hive. The flight trajectories of the bees as they approached the obstacle wall and traversed the gap were analyzed in order to evaluate their behavior as a function of the distance between the gap and a background wall that was placed behind the gap. Bumblebees initially decelerate when confronted with an unexpected obstacle. Deceleration was first noticed when the obstacle subtended around 35{degrees} on the retina but also depended on the properties of the gap. Subsequently the bees gradually traded off their longitudinal velocity to lateral velocity and approached the gap increasing lateral displacements and lateral velocity. Bumblebees shaped their flight trajectory depending on the salience of the gap, in our case, indicated by the optic flow contrast between the region within the gap and on the obstacle, which increases with decreasing distance between the gap and the background wall. As the optic flow contrast decreased the bees spent increasing time moving laterally across the obstacles. During these repeated lateral maneuvers the bees are likely assessing gap geometry and passability.

animal behavior and cognition↗