PMID- 21769484
OWN - NLM
STAT- MEDLINE
DCOM- 20120312
LR  - 20240213
IS  - 1432-1203 (Electronic)
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 131
IP  - 2
DP  - 2012 Feb
TI  - The cell adhesion gene PVRL3 is associated with congenital ocular defects.
PG  - 235-50
LID - 10.1007/s00439-011-1064-z [doi]
AB  - We describe a male patient (patient DGAP113) with a balanced translocation, 
      46,XY,t(1;3)(q31.3;q13.13), severe bilateral congenital cataracts, CNS 
      abnormalities and mild developmental delay. Fluorescence in situ hybridization 
      (FISH) and suppression PCR demonstrated that the chromosome 3 breakpoint lies 
      ~515 kb upstream of the PVRL3 gene, while the chromosome 1 breakpoint lies ~50 kb 
      upstream of the NEK7 gene. Despite the fact that NEK7 is closer to a 
      translocation breakpoint than PVRL3, NEK7 transcript levels are unaltered in 
      patient DGAP113 lymphoblastoid cells and Nek7-deficient mice exhibit no 
      detectable ocular phenotype. In contrast, the expression of PVRL3, which encodes 
      the cell adhesion protein Nectin 3, is significantly reduced in patient DGAP113 
      lymphoblastoid cells, likely due to a position effect caused by the chromosomal 
      translocation. Nectin 3 is expressed in the mouse embryonic ciliary body and 
      lens. Moreover, Pvrl3 knockout mice as well as a spontaneous mouse mutant ari 
      (anterior retinal inversion), that maps to the Pvrl3 locus, exhibit lens and 
      other ocular defects involving the ciliary body. Collectively, these data 
      identify PVRL3 as a critical gene involved in a Nectin-mediated cell-cell 
      adhesion mechanism in human ocular development.
FAU - Lachke, Salil A
AU  - Lachke SA
AD  - Division of Genetics, Department of Medicine, Brigham and Women's Hospital, 
      Harvard Medical School, Boston, MA 02115, USA.
FAU - Higgins, Anne W
AU  - Higgins AW
FAU - Inagaki, Maiko
AU  - Inagaki M
FAU - Saadi, Irfan
AU  - Saadi I
FAU - Xi, Qiongchao
AU  - Xi Q
FAU - Long, Michelle
AU  - Long M
FAU - Quade, Bradley J
AU  - Quade BJ
FAU - Talkowski, Michael E
AU  - Talkowski ME
FAU - Gusella, James F
AU  - Gusella JF
FAU - Fujimoto, Atsuko
AU  - Fujimoto A
FAU - Robinson, Michael L
AU  - Robinson ML
FAU - Yang, Ying
AU  - Yang Y
FAU - Duong, Quynh T
AU  - Duong QT
FAU - Shapira, Irit
AU  - Shapira I
FAU - Motro, Benny
AU  - Motro B
FAU - Miyoshi, Jun
AU  - Miyoshi J
FAU - Takai, Yoshimi
AU  - Takai Y
FAU - Morton, Cynthia C
AU  - Morton CC
FAU - Maas, Richard L
AU  - Maas RL
LA  - eng
GR  - R01 EY021505-01/EY/NEI NIH HHS/United States
GR  - R01 EY010123-15/EY/NEI NIH HHS/United States
GR  - 5R01EY10123-15/EY/NEI NIH HHS/United States
GR  - R01EY12995/EY/NEI NIH HHS/United States
GR  - R01 HD060050-04/HD/NICHD NIH HHS/United States
GR  - R01EY021505/EY/NEI NIH HHS/United States
GR  - T35-EY07151/EY/NEI NIH HHS/United States
GR  - R01 HD060050/HD/NICHD NIH HHS/United States
GR  - P01 GM061354-07/GM/NIGMS NIH HHS/United States
GR  - R01 EY012995-01/EY/NEI NIH HHS/United States
GR  - R01 EY021505/EY/NEI NIH HHS/United States
GR  - 5P01GM061354-07/GM/NIGMS NIH HHS/United States
GR  - R01 EY012995/EY/NEI NIH HHS/United States
GR  - R01 HD060050-02/HD/NICHD NIH HHS/United States
GR  - T35 EY007151/EY/NEI NIH HHS/United States
GR  - P01 GM061354/GM/NIGMS NIH HHS/United States
GR  - 5R01HD060050-02/HD/NICHD NIH HHS/United States
GR  - R01 EY010123/EY/NEI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20110717
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Cell Adhesion Molecules)
RN  - 0 (NECTIN3 protein, human)
RN  - 0 (Nectin3 protein, mouse)
RN  - 0 (Nectins)
RN  - EC 2.7.11.1 (NIMA-Related Kinases)
RN  - EC 2.7.11.1 (Nek7 protein, mouse)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
SB  - IM
MH  - Animals
MH  - Cataract/*congenital/*genetics
MH  - Cell Adhesion Molecules/*genetics/metabolism
MH  - Cell Line
MH  - Chromosome Breakage
MH  - Humans
MH  - Lymphocytes
MH  - Male
MH  - Mice
MH  - Mutation
MH  - NIMA-Related Kinases
MH  - Nectins
MH  - Protein Serine-Threonine Kinases/metabolism
MH  - Translocation, Genetic
PMC - PMC3279124
MID - NIHMS324425
COIS- The authors declare no conflicts of interest.
EDAT- 2011/07/20 06:00
MHDA- 2012/03/13 06:00
PMCR- 2013/02/01
CRDT- 2011/07/20 06:00
PHST- 2011/02/22 00:00 [received]
PHST- 2011/07/02 00:00 [accepted]
PHST- 2011/07/20 06:00 [entrez]
PHST- 2011/07/20 06:00 [pubmed]
PHST- 2012/03/13 06:00 [medline]
PHST- 2013/02/01 00:00 [pmc-release]
AID - 10.1007/s00439-011-1064-z [doi]
PST - ppublish
SO  - Hum Genet. 2012 Feb;131(2):235-50. doi: 10.1007/s00439-011-1064-z. Epub 2011 Jul 
      17.