PMID- 10196367
OWN - NLM
STAT- MEDLINE
DCOM- 19990623
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 5
DP  - 1999 May
TI  - A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping
      antisense transcript in the Prader-Willi syndrome critical region.
PG  - 783-93
AB  - We describe a complex imprinted locus in chromosome 15q11-q13 that encodes two
      genes, ZNF127 and ZNF127AS. The ZNF127 gene encodes a protein with a RING (C3HC4)
      zinc-finger and multiple C3H zinc-finger motifs, the former being closely related
      to a protein from variola major virus, the smallpox etiological agent. These
      motifs allow prediction of ZNF127 function as a ribonucleoprotein. The intronless
      ZNF127 gene is expressed ubiquitously, but the entire coding sequence and 5' CpG 
      island overlaps a second gene, ZNF127AS, that is transcribed from the antisense
      strand with a different transcript size and pattern of expression.
      Allele-specific analysis shows that ZNF127 is expressed only from the paternal
      allele. Consistent with this expression pattern, in the brain the ZNF127 5' CpG
      island is completely unmethylated on the paternal allele but methylated on the
      maternal allele. Analyses of adult testis, sperm and fetal oocytes demonstrates a
      gametic methylation imprint with unmethylated paternal germ cells. Recent
      findings indicate that ZNF127 is part of the coordinately regulated imprinted
      domain affected in Prader-Willi syndrome patients with imprinting mutations.
      Therefore, ZNF127 and ZNF127AS are novel imprinted genes that may be associated
      with some of the clinical features of the polygenic Prader-Willi syndrome.
FAU - Jong, M T
AU  - Jong MT
AD  - Department of Genetics and Center for Human Genetics, Case Western Reserve
      University School of Medicine, University Hospitals of Cleveland, 10900 Euclid
      Avenue, Cleveland, OH 44106-4955, USA.
FAU - Gray, T A
AU  - Gray TA
FAU - Ji, Y
AU  - Ji Y
FAU - Glenn, C C
AU  - Glenn CC
FAU - Saitoh, S
AU  - Saitoh S
FAU - Driscoll, D J
AU  - Driscoll DJ
FAU - Nicholls, R D
AU  - Nicholls RD
LA  - eng
SI  - GENBANK/AF140513
GR  - GM18306/GM/NIGMS NIH HHS/United States
GR  - HD31941/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (DNA, Antisense)
RN  - 0 (MKRN3 protein, human)
RN  - 0 (Ribonucleoproteins)
SB  - IM
MH  - Adolescent
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Child
MH  - Child, Preschool
MH  - DNA Methylation
MH  - DNA, Antisense
MH  - Gene Expression Regulation, Developmental
MH  - Genes, Overlapping
MH  - *Genomic Imprinting
MH  - Germ Cells/physiology
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Molecular Sequence Data
MH  - Prader-Willi Syndrome/*genetics
MH  - Ribonucleoproteins/*genetics/metabolism
MH  - Testis/metabolism
MH  - Transcription, Genetic
MH  - Zinc Fingers/*genetics
EDAT- 1999/04/10 00:00
MHDA- 1999/04/10 00:01
CRDT- 1999/04/10 00:00
PHST- 1999/04/10 00:00 [pubmed]
PHST- 1999/04/10 00:01 [medline]
PHST- 1999/04/10 00:00 [entrez]
AID - ddc085 [pii]
AID - 10.1093/hmg/8.5.783 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 May;8(5):783-93. doi: 10.1093/hmg/8.5.783.