PMID- 33682352
OWN - NLM
STAT- MEDLINE
DCOM- 20220214
LR  - 20220214
IS  - 1526-968X (Electronic)
IS  - 1526-954X (Linking)
VI  - 59
IP  - 4
DP  - 2021 Apr
TI  - VPS4B deficiency causes early embryonic lethality and induces signal transduction 
      disorders of cell endocytosis.
PG  - e23415
LID - 10.1002/dvg.23415 [doi]
AB  - VPS4B (vacuolar protein sorting 4B), a member of the ATPase associated with 
      diverse cellular activities (AAA) protein family, is a component of the endosomal 
      sorting complexes required for transport machinery which regulates the 
      internalization and lysosomal degradation of membrane proteins. We previously 
      reported that VPS4B is one of the pathogenic genes related to dentin dysplasia 
      type I, although its function was largely unknown. To investigate the role of 
      VPS4B in tooth development, we deleted the Vps4b gene in mice. We found that 
      heterozygous knockout mice (Vps4b(+/-) ) developed normally and were fertile. 
      However, homozygous deletion of the Vps4b gene resulted in early embryonic 
      lethality of Vps4b(-/-) mice at approximately embryonic day 9.5 (E9.5). To 
      investigate the underlying molecular mechanisms, we examined the molecular 
      functions of VPS4B in vivo and in vitro. Cell experiments showed that VPS4B 
      influenced the proliferation, apoptosis, and cell cycle of transfected human 
      neuroblastoma cells (IMR-32 cells) with over-expression or knockdown of VPS4B. 
      Moreover, qRT-PCR detection showed that the mRNA expression levels of apoptosis-, 
      cell cycle-, and endocytosis-related genes was significantly down or up-regulated 
      in RNA interference-mediated knockdown of VPS4B in IMR-32 cells and Vps4b(+/-) 
      E12.5 embryos. We accordingly speculated that signal transduction disorders of 
      cell endocytosis are a contributing factor to the prenatal lethality of 
      Vps4b(-/-) mice.
CI  - (c) 2021 Wiley Periodicals LLC.
FAU - Chen, Danna
AU  - Chen D
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern 
      Medical University, Guangzhou, China.
FAU - He, Fei
AU  - He F
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern 
      Medical University, Guangzhou, China.
FAU - Lu, Ting
AU  - Lu T
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern 
      Medical University, Guangzhou, China.
AD  - Department of Stomatology, Nanfang Hospital, Southern Medical University, 
      Guangzhou, China.
FAU - Huang, Jin
AU  - Huang J
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern 
      Medical University, Guangzhou, China.
FAU - Li, Meiyi
AU  - Li M
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern 
      Medical University, Guangzhou, China.
FAU - Cai, Decheng
AU  - Cai D
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern 
      Medical University, Guangzhou, China.
FAU - Huang, Cheng
AU  - Huang C
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern 
      Medical University, Guangzhou, China.
FAU - Chen, Dong
AU  - Chen D
AD  - Department of Stomatology, the First Affiliated Hospital of Zhengzhou University, 
      Zhengzhou, China.
FAU - Xiong, Fu
AU  - Xiong F
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern 
      Medical University, Guangzhou, China.
AD  - Key Laboratory of Single Cell Technology and Application in Guangdong, Guangzhou, 
      China.
AD  - Guangdong Province Key Laboratory of Psychiatric Disorders, Guangzhou, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210307
PL  - United States
TA  - Genesis
JT  - Genesis (New York, N.Y. : 2000)
JID - 100931242
RN  - 0 (Endosomal Sorting Complexes Required for Transport)
RN  - EC 3.6.4.- (ATPases Associated with Diverse Cellular Activities)
RN  - EC 3.6.4.6 (Vps4b protein, mouse)
RN  - Dentin dysplasia, type 1
SB  - IM
MH  - ATPases Associated with Diverse Cellular Activities/deficiency/*genetics
MH  - Animals
MH  - Apoptosis
MH  - Cell Line, Tumor
MH  - Dentin Dysplasia/*genetics
MH  - *Endocytosis
MH  - Endosomal Sorting Complexes Required for Transport/deficiency/*genetics
MH  - Humans
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - *Signal Transduction
OTO - NOTNLM
OT  - VPS4B gene
OT  - cell endocytosis
OT  - embryonic lethality
OT  - knockout mouse
EDAT- 2021/03/09 06:00
MHDA- 2022/02/15 06:00
CRDT- 2021/03/08 06:03
PHST- 2021/01/10 00:00 [revised]
PHST- 2020/11/12 00:00 [received]
PHST- 2021/01/11 00:00 [accepted]
PHST- 2021/03/09 06:00 [pubmed]
PHST- 2022/02/15 06:00 [medline]
PHST- 2021/03/08 06:03 [entrez]
AID - 10.1002/dvg.23415 [doi]
PST - ppublish
SO  - Genesis. 2021 Apr;59(4):e23415. doi: 10.1002/dvg.23415. Epub 2021 Mar 7.