Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency.
Nuclear lamins are components of the nuclear lamina, a structural scaffolding for the cell nucleus. Defects in lamins A and C cause an array of human diseases, including muscular dystrophy, lipodystrophy, and progeria, but no diseases have been linked to the loss of lamins B1 or B2. To explore the functional relevance of lamin B2, we generated lamin B2-deficient mice and found that they have severe brain abnormalities resembling lissencephaly, with abnormal layering of neurons in the cerebral cortex and cerebellum. This neuronal layering abnormality is due to defective neuronal migration, a process that is dependent on the organized movement of the nucleus within the cell. These studies establish an essential function for lamin B2 in neuronal migration and brain development.
Coffinier
Catherine
C
Departments of Medicine and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA. coffinie@ucla.edu
Chang
Sandy Y
SY
Nobumori
Chika
C
Tu
Yiping
Y
Farber
Emily A
EA
Toth
Julia I
JI
Fong
Loren G
LG
Young
Stephen G
SG
D000818:Animals; D002465:Cell Movement; D002531:Cerebellum / Q000002:abnormalities* / Q000196:embryology* / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000196:embryology* / Q000473:pathology; D020868:Gene Silencing; D034921:Lamin Type B / Q000172:deficiency* / Q000378:metabolism; D051379:Mice; D009474:Neurons / Q000473:pathology
D034921:Lamin Type B