Table 1.
Function-altering variants in P. harrisi are enriched for genes that cause skeletal ciliopathies in humans.
| Gene | Pathway | Variant | PROVEAN score | Human Syndrome |
|---|---|---|---|---|
| Ofd1 | Cilia/Hh | R325C | −6.913 | Orofaciodigital and Joubert |
| K517T | −5.673 | |||
| E889G | −5.068 | |||
|
| ||||
| Talpid3 | Cilia/Hh | D759V | −7.805 | Joubert and Jeune |
|
| ||||
| Evc | Cilia/Hh | T341I | −5.546 | Ellias-Van Creveld |
|
| ||||
| Dync2h1 | Cilia/Hh | P2733S | −7.431 | Short-rib thoracic dysplasia |
|
| ||||
| Ift122 | Cilia/Hh | Q691L | −5.491 | Cranioectodermal dysplasia |
|
| ||||
| Wdr34 | Cilia/Hh | P188R | −6.337 | Short-rib thoracic dysplasia |
|
| ||||
| Kif7 | Cilia/Hh | R833W | −6.827 | Joubert and Acrocallosal |
|
| ||||
| Gli2 | Hh | P1086T | −5.117 | Culler-Jones |
|
| ||||
| Fat1 | PCP | S1717L | −5.858 | Facioscapulohumeral Dystrophy (*) |
| Y2462C | −8.592 | |||
|
| ||||
| Dchs1 | PCP | G2063D | −6.45 | Van Maldergem |
|
| ||||
| Dvl1 | PCP | P103L | −8.23 | Robinow |
Sanger validated examples of function-altering variants (PROVEAN score <−5) in P. harrisi. Cilia/Hh related genes were found based on functional enrichment for human syndromes. PCP (Planar cell polarity) genes were selected based on literature evidence linking cilia and PCP. These variant are fixed in the population.
(*) Based on phenotypic similarity to mutant mouse model.