Unknown

Dataset Information

0

Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death.


ABSTRACT: Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in KIAA1279, which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We examined the effects of inactivation of Kif1bp in mice. Mice lacking Kif1bp died shortly after birth, and exhibited smaller brains, olfactory bulbs and anterior commissures, and defects in the vagal and sympathetic innervation of the gut. Kif1bp was found to interact with Ret to regulate the development of the vagal innervation of the stomach. Although newborn Kif1bp -/- mice had neurons along the entire bowel, the colonization of the gut by neural crest-derived cells was delayed. The data show an essential in vivo role for KIF1BP in axon extension from some neurons, and the reduced size of the olfactory bulb also suggests additional roles for KIF1BP. Our mouse model provides a valuable resource to understand GOSHS.

SUBMITTER: Hirst CS 

PROVIDER: S-EPMC5709403 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

altmetric image

Publications

Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death.

Hirst Caroline S CS   Stamp Lincon A LA   Bergner Annette J AJ   Hao Marlene M MM   Tran Mai X MX   Morgan Jan M JM   Dutschmann Matthias M   Allen Andrew M AM   Paxinos George G   Furlong Teri M TM   McKeown Sonja J SJ   Young Heather M HM  

Scientific reports 20171130 1


Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in KIAA1279, which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We examined the effects of inactivation of Kif1bp in mice. Mice lacking Kif1bp died shortly after birth, and exhibited smaller brains, olfactory bulbs and anterior commissures, and defects in the vagal and  ...[more]

Similar Datasets

| S-EPMC6513999 | biostudies-literature
| S-EPMC9947450 | biostudies-literature
| S-EPMC3581923 | biostudies-literature
2015-04-01 | E-GEOD-64703 | biostudies-arrayexpress
2015-04-01 | GSE64703 | GEO
| S-EPMC3839698 | biostudies-literature
| S-EPMC3669927 | biostudies-literature
| S-EPMC7513977 | biostudies-literature
| S-EPMC4190158 | biostudies-literature
| S-EPMC4411011 | biostudies-literature