PMID- 35992033
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220823
IS  - 1687-966X (Print)
IS  - 1687-9678 (Electronic)
VI  - 2022
DP  - 2022
TI  - Single-Cell Transcriptome Analysis Defines Expression of Kabuki 
      Syndrome-Associated KMT2D Targets and Interacting Partners.
PG  - 4969441
LID - 10.1155/2022/4969441 [doi]
LID - 4969441
AB  - Objectives. Kabuki syndrome (KS) is a rare genetic disorder characterized by 
      developmental delay, retarded growth, and cardiac, gastrointestinal, 
      neurocognitive, renal, craniofacial, dental, and skeletal defects. KS is caused 
      by mutations in the genes encoding histone H3 lysine 4 methyltransferase (KMT2D) 
      and histone H3 lysine 27 demethylase (KDM6A), which are core components of the 
      complex of proteins associated with histone H3 lysine 4 methyltransferase SET1 
      (SET1/COMPASS). Using single-cell RNA data, we examined the expression profiles 
      of Kmt2d and Kdm6a in the mouse dental pulp. In the incisor pulp, Kmt2d and Kdm6a 
      colocalize with other genes of the SET1/COMPASS complex comprised of the 
      WD-repeat protein 5 gene (Wdr5), the retinoblastoma-binding protein 5 gene 
      (Rbbp5), absent, small, and homeotic 2-like protein-encoding gene (Ash2l), 
      nuclear receptor cofactor 6 gene (Ncoa6), and Pax-interacting protein 1 gene 
      (Ptip1). In addition, we found that Kmt2d and Kdm6a coexpress with the downstream 
      target genes of the Wingless and Integrated (WNT) and sonic hedgehog signaling 
      pathways in mesenchymal stem/stromal cells (MSCs) at different stages of 
      osteogenic differentiation. Taken together, our results suggest an essential role 
      of KMT2D and KDK6A in directing lineage-specific gene expression during 
      differentiation of MSCs.
CI  - Copyright (c) 2022 Badam Enkhmandakh et al.
FAU - Enkhmandakh, Badam
AU  - Enkhmandakh B
AD  - Center for Regenerative Medicine and Skeletal Development, Department of 
      Reconstructive Sciences, University of Connecticut Health Center, 263 Farmington 
      Avenue, Farmington, CT 06030, USA.
FAU - Robson, Paul
AU  - Robson P
AD  - The Jackson Laboratory for Genomic Medicine, Farmington, CT 06030, USA.
FAU - Joshi, Pujan
AU  - Joshi P
AD  - Computer Science and Engineering Department, University of Connecticut, 371 
      Fairfield Way, Unit 4155, Storrs, CT 06269, USA.
FAU - Vijaykumar, Anushree
AU  - Vijaykumar A
AD  - Department of Craniofacial Sciences, University of Connecticut Health Center, 263 
      Farmington Avenue, Farmington, CT 06030, USA.
FAU - Shin, Dong-Guk
AU  - Shin DG
AD  - Computer Science and Engineering Department, University of Connecticut, 371 
      Fairfield Way, Unit 4155, Storrs, CT 06269, USA.
FAU - Mina, Mina
AU  - Mina M
AD  - Department of Craniofacial Sciences, University of Connecticut Health Center, 263 
      Farmington Avenue, Farmington, CT 06030, USA.
FAU - Bayarsaihan, Dashzeveg
AU  - Bayarsaihan D
AUID- ORCID: 0000-0001-9080-1271
AD  - Center for Regenerative Medicine and Skeletal Development, Department of 
      Reconstructive Sciences, University of Connecticut Health Center, 263 Farmington 
      Avenue, Farmington, CT 06030, USA.
AD  - Institute for System Genomics, University of Connecticut, Engineering Science 
      Building Rm. 305, 67 North Eagleville Road, Storrs, CT 06269, USA.
LA  - eng
PT  - Journal Article
DEP - 20220812
PL  - United States
TA  - Stem Cells Int
JT  - Stem cells international
JID - 101535822
PMC - PMC9391158
COIS- The authors declare that they have no conflicts of interest.
EDAT- 2022/08/23 06:00
MHDA- 2022/08/23 06:01
PMCR- 2022/08/12
CRDT- 2022/08/22 04:20
PHST- 2022/03/08 00:00 [received]
PHST- 2022/06/13 00:00 [revised]
PHST- 2022/07/30 00:00 [accepted]
PHST- 2022/08/22 04:20 [entrez]
PHST- 2022/08/23 06:00 [pubmed]
PHST- 2022/08/23 06:01 [medline]
PHST- 2022/08/12 00:00 [pmc-release]
AID - 10.1155/2022/4969441 [doi]
PST - epublish
SO  - Stem Cells Int. 2022 Aug 12;2022:4969441. doi: 10.1155/2022/4969441. eCollection 
      2022.