PMID- 20813170
OWN - NLM
STAT- MEDLINE
DCOM- 20110224
LR  - 20211028
IS  - 1873-2747 (Electronic)
IS  - 0361-9230 (Print)
IS  - 0361-9230 (Linking)
VI  - 83
IP  - 6
DP  - 2010 Nov 20
TI  - Expression of PLA2G6 in human fetal development: Implications for infantile 
      neuroaxonal dystrophy.
PG  - 374-9
LID - 10.1016/j.brainresbull.2010.08.011 [doi]
AB  - Mutations in PLA2G6, which encodes calcium-independent phospholipase A(2) group 
      VIA (iPLA2-VIA), underlie the autosomal recessive disorder infantile neuroaxonal 
      dystrophy (INAD). INAD typically presents in the first year of life, and leads to 
      optic atrophy and psychomotor regression. We have examined PLA2G6 expression in 
      early human embryonic development by in situ hybridization. At Carnegie Stage 
      (CS) 19 (approximately 7 post-conception weeks [PCW]), strong expression is 
      evident in the ventricular zone (VZ) of midbrain and forebrain suggestive of 
      expression in neural stem and progenitor cells. At CS23 (8PCW) expression is also 
      detectable in the VZ of the hindbrain and the subventricular zone (SVZ) of the 
      developing neocortex, ganglionic eminences and diencephalon. By 9PCW strong 
      expression in the post-mitotic cells of the cortical plate can be seen in the 
      developing neocortex. In the eye, expression is seen in the lens and retina at 
      all stages examined. PLA2G6 expression is also evident in the alar plate of the 
      spinal cord, dorsal root ganglia, the retina and lens in the eye and several 
      non-neuronal tissues, including developing bones, lung, kidney and gut. These 
      findings suggest a role for PLA2G6 in neuronal proliferation throughout the 
      developing brain and in maturing neurons in the cortical plate and hindbrain. 
      Although widespread PLA2G6 expression is detected in neuronal tissues, the 
      pattern shows dynamic changes with time and indicates that INAD pathogenesis may 
      begin prior to birth.
CI  - 2010 Elsevier Inc. All rights reserved.
FAU - Polster, Brenda
AU  - Polster B
AD  - Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam 
      Jackson Park Rd., Portland, OR 97239, United States. polsterb@ohsu.edu
FAU - Crosier, Moira
AU  - Crosier M
FAU - Lindsay, Susan
AU  - Lindsay S
FAU - Hayflick, Susan
AU  - Hayflick S
LA  - eng
GR  - WT_/Wellcome Trust/United Kingdom
GR  - R01 HD050832-01A1/HD/NICHD NIH HHS/United States
GR  - R01 EY012353-01/EY/NEI NIH HHS/United States
GR  - R01 EY012353/EY/NEI NIH HHS/United States
GR  - G9900837/MRC_/Medical Research Council/United Kingdom
GR  - G0700089/MRC_/Medical Research Council/United Kingdom
GR  - R01 HD050832/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20100909
PL  - United States
TA  - Brain Res Bull
JT  - Brain research bulletin
JID - 7605818
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Age Factors
MH  - Brain/embryology/metabolism
MH  - Eye/embryology/metabolism
MH  - Fetal Development/*physiology
MH  - Fetus/embryology/*metabolism
MH  - Gene Expression Regulation, Developmental/*physiology
MH  - Group VI Phospholipases A2/genetics/*metabolism
MH  - Humans
MH  - Spinal Cord/embryology/metabolism
PMC - PMC2975838
MID - NIHMS243039
EDAT- 2010/09/04 06:00
MHDA- 2011/02/25 06:00
PMCR- 2011/11/20
CRDT- 2010/09/04 06:00
PHST- 2010/07/02 00:00 [received]
PHST- 2010/08/17 00:00 [revised]
PHST- 2010/08/24 00:00 [accepted]
PHST- 2010/09/04 06:00 [entrez]
PHST- 2010/09/04 06:00 [pubmed]
PHST- 2011/02/25 06:00 [medline]
PHST- 2011/11/20 00:00 [pmc-release]
AID - S0361-9230(10)00191-7 [pii]
AID - 10.1016/j.brainresbull.2010.08.011 [doi]
PST - ppublish
SO  - Brain Res Bull. 2010 Nov 20;83(6):374-9. doi: 10.1016/j.brainresbull.2010.08.011. 
      Epub 2010 Sep 9.