PMID- 10655556
OWN - NLM
STAT- MEDLINE
DCOM- 20000504
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 9
IP  - 3
DP  - 2000 Feb 12
TI  - The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for 
      transient neonatal diabetes.
PG  - 453-60
AB  - We describe a screen for new imprinted human genes, and the identification in
      this way of ZAC (zinc finger protein which regulates apoptosis and cell cycle
      arrest)/ PLAGL1 (pleomorphicadenoma of the salivary gland gene like 1) as a
      strong candidate gene for transient neonatal diabetes mellitus (TNDM). To screen 
      for imprinted genes, we compared parthenogenetic DNA from the chimeric patient FD
      and androgenetic DNA from hydatidiform mole, using restriction landmark genome
      scanning for methylation. This resulted in identification of two novel imprinted 
      loci, one of which (NV149) we mapped to the TNDM region of 6q24. From analysis of
      the corresponding genomic region, it was determined that NV149 lies approximately
      60 kb upstream of the ZAC / PLAGL1 gene. RT-PCR analysis was used to confirm that
      this ZAC / PLAGL1 is expressed only from the paternal allele in a variety of
      tissues. TNDM is known to result from upregulation of a paternally expressed gene
      on chromosome 6q24. The paternal expression, map position and known biological
      properties of ZAC / PLAGL1 make it highly likely that it is the TNDM gene. In
      particular, ZAC / PLAGL1 is a transcriptional regulator of the type 1 receptor
      for pituitary adenylate cyclase-activating polypeptide, which is the most potent 
      known insulin secretagog and an important mediator of autocrine control of
      insulin secretion in the pancreatic islet.
FAU - Kamiya, M
AU  - Kamiya M
AD  - CREST, Japan Science and Technology Corporation (JST), Genome Exploration
      Research Group, Genomic Sciences Center (GSC), Genome Science Laboratory and
      Biogenetic Research Center, Riken Tsukuba Life Science Center, Ibaraki, Japan.
FAU - Judson, H
AU  - Judson H
FAU - Okazaki, Y
AU  - Okazaki Y
FAU - Kusakabe, M
AU  - Kusakabe M
FAU - Muramatsu, M
AU  - Muramatsu M
FAU - Takada, S
AU  - Takada S
FAU - Takagi, N
AU  - Takagi N
FAU - Arima, T
AU  - Arima T
FAU - Wake, N
AU  - Wake N
FAU - Kamimura, K
AU  - Kamimura K
FAU - Satomura, K
AU  - Satomura K
FAU - Hermann, R
AU  - Hermann R
FAU - Bonthron, D T
AU  - Bonthron DT
FAU - Hayashizaki, Y
AU  - Hayashizaki Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (PLAGL1 protein, human)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (Transcription Factors)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Cell Cycle
MH  - *Cell Cycle Proteins
MH  - Chromosomes, Human, Pair 6/genetics
MH  - Contig Mapping
MH  - CpG Islands
MH  - DNA-Binding Proteins/*genetics/metabolism
MH  - Diabetes Mellitus, Type 1/*genetics/metabolism
MH  - Female
MH  - *Genes, Tumor Suppressor
MH  - *Genomic Imprinting
MH  - Humans
MH  - Infant, Newborn
MH  - Methylation
MH  - Polymerase Chain Reaction
MH  - RNA-Binding Proteins/*genetics/metabolism
MH  - Restriction Mapping
MH  - *Transcription Factors
MH  - Tumor Suppressor Proteins
MH  - *Zinc Fingers
EDAT- 2000/02/03 09:00
MHDA- 2000/05/08 09:00
CRDT- 2000/02/03 09:00
PHST- 2000/02/03 09:00 [pubmed]
PHST- 2000/05/08 09:00 [medline]
PHST- 2000/02/03 09:00 [entrez]
AID - ddd045 [pii]
AID - 10.1093/hmg/9.3.453 [doi]
PST - ppublish
SO  - Hum Mol Genet. 2000 Feb 12;9(3):453-60. doi: 10.1093/hmg/9.3.453.