DONSON
Developmental stage
Expressed during embryonic development. At Carnegie stage 22 (about 7.5 weeks gestation), expressed in numerous tissues, including brain, heart, lung, gastrointestinal tract, kidney, hind limb and forelimb digits. Similar expression is observed at 9 weeks of gestation. In the brain of a 9-week old fetus, prominently expressed in the neocortex subventricular zone and in the cortical plate and also detected in the ganglionic eminences. At 12 weeks of gestation, expression in the fetal brain is prominent in the basal ganglia and the ventricular and subventricular zones and cortical plate of the neocortex, mesencephalon, and rhombencephalon. At 15 and 16 weeks, highly expressed in the ventricular and subventricular zones, respectively. Highly expressed in the ganglionic eminence of 15 week-old brain and subplate of 16 week-old brain. At 20 weeks of gestation, expressed in the ventricular and subventricular zones, intermediate zone, and cortical plate of the neocortex. At 21 weeks of gestation, expressed in the neocortex with highest levels in the cortical plate.
Function
Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability.
Involvement in disease
Microcephaly-micromelia syndrome
MIMIS
A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period.
None
The disease is caused by variants affecting the gene represented in this entry. This extremely rare syndrome is caused by an intronic mutation that leads to the retention of intron 6, probably resulting in non-sense mediated mRNA decay. This isoform has also been detected in healthy tissues, but at much lower levels than in MIMIS samples.
Microcephaly, short stature, and limb abnormalities
MISSLA
An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DONSON family.
Tissue Specificity
Expressed in the brain, with higher levels in prenatal compared to adult brain.
Cellular localization
- Nucleus
- Localizes at DNA replication sites.
Alternative names
C21orf60, DONSON, Protein downstream neighbor of Son, B17