PMID- 20007998
OWN - NLM
STAT- MEDLINE
DCOM- 20100629
LR  - 20211020
IS  - 1460-2083 (Electronic)
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 19
IP  - 5
DP  - 2010 Mar 1
TI  - Prdm16 is required for normal palatogenesis in mice.
PG  - 774-89
LID - 10.1093/hmg/ddp543 [doi]
AB  - Transcriptional cofactors are essential to the regulation of transforming growth 
      factor beta (TGFbeta) superfamily signaling and play critical and widespread 
      roles during embryonic development, including craniofacial development. We 
      describe the cleft secondary palate 1 (csp1) N-ethyl-N-nitrosourea-induced mouse 
      model of non-syndromic cleft palate (NSCP) that is caused by an intronic Prdm16 
      splicing mutation. Prdm16 encodes a transcriptional cofactor that regulates 
      TGFbeta signaling, and its expression pattern is consistent with a role in palate 
      and craniofacial development. The cleft palate (CP) appears to be the result of 
      micrognathia and failed palate shelf elevation due to physical obstruction by the 
      tongue, resembling human Pierre Robin sequence (PRS)-like cleft secondary palate. 
      PRDM16 should be considered a candidate for mutation in human clefting disorders, 
      especially NSCP and PRS-like CP.
FAU - Bjork, Bryan C
AU  - Bjork BC
AD  - Genetics Division, Brigham and Women's Hospital, Harvard Medical School, New 
      Research Building, Boston, MA 02115, USA.
FAU - Turbe-Doan, Annick
AU  - Turbe-Doan A
FAU - Prysak, Mary
AU  - Prysak M
FAU - Herron, Bruce J
AU  - Herron BJ
FAU - Beier, David R
AU  - Beier DR
LA  - eng
GR  - F32 HD045066/HD/NICHD NIH HHS/United States
GR  - K12 DE014528/DE/NIDCR NIH HHS/United States
GR  - R01 DE015246/DE/NIDCR NIH HHS/United States
GR  - R01 HD036404/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20091211
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Prdm16 protein, mouse)
RN  - 0 (Transcription Factors)
RN  - 0 (Transforming Growth Factor beta)
SB  - IM
MH  - Animals
MH  - Cleft Palate/*embryology/metabolism
MH  - DNA-Binding Proteins/*genetics/metabolism
MH  - Embryo, Mammalian/metabolism
MH  - Gene Expression Regulation, Developmental
MH  - Mice
MH  - Mice, Inbred BALB C
MH  - Models, Animal
MH  - Mutation
MH  - Transcription Factors/*genetics/metabolism
MH  - Transforming Growth Factor beta/genetics/metabolism
PMC - PMC2816611
EDAT- 2009/12/17 06:00
MHDA- 2010/06/30 06:00
PMCR- 2011/03/01
CRDT- 2009/12/17 06:00
PHST- 2009/12/17 06:00 [entrez]
PHST- 2009/12/17 06:00 [pubmed]
PHST- 2010/06/30 06:00 [medline]
PHST- 2011/03/01 00:00 [pmc-release]
AID - ddp543 [pii]
AID - 10.1093/hmg/ddp543 [doi]
PST - ppublish
SO  - Hum Mol Genet. 2010 Mar 1;19(5):774-89. doi: 10.1093/hmg/ddp543. Epub 2009 Dec 
      11.