Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Drug
Enzyme
Compound
Query: UMLS:C0025362 (
mental retardation
)
15,878
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Primary microcephaly
(MCPH) is a neurodevelopmental disorder characterized by small brain size with
mental retardation
.
CPAP
(also known as
CENPJ
), a known microcephaly-associated gene, plays a key role in centriole biogenesis. Here, we generated a previously unreported conditional knockout allele in the mouse
Cpap
gene. Our results showed that conditional
Cpap
deletion in the central nervous system preferentially induces formation of monopolar spindles in radial glia progenitors (RGPs) at around embryonic day 14.5 and causes robust apoptosis that severely disrupts embryonic brains. Interestingly, microcephalic brains with reduced apoptosis are detected in conditional
Cpap
gene-deleted mice that lose only one allele of
p53
(also known as
Trp53
), while simultaneous removal of
p53
and
Cpap
rescues RGP death. Furthermore,
Cpap
deletion leads to cilia loss, RGP mislocalization, junctional integrity disruption, massive heterotopia and severe cerebellar hypoplasia. Together, these findings indicate that complete CPAP loss leads to severe and complex phenotypes in developing mouse brain, and provide new insights into the causes of MCPH.
...
PMID:Loss of CPAP in developing mouse brain and its functional implication for human primary microcephaly. 3250 Dec 82
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