The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2.
A small fraction of the genome contains genes that are imprinted and thus expressed exclusively from one parental allele. We report here that the human neuronatin gene (NNAT) on chromosome 20q11.2 is imprinted and transcribed specifically from the paternal allele. The region containing NNAT has multiple CpG islands, and methylation analysis showed that a 1.8-kb CpG island in its promoter region exhibits differential methylation in all tissues examined. This finding is consistent with the island acting as a component of the NNAT imprint control domain. NNAT lies within the singular 8.5-kb intron of the gene encoding bladder cancer-associated protein (BLCAP), which, as we demonstrate, is not imprinted. This study provides the first example, to our knowledge, in humans of an imprinted gene contained within the genomic structure of a nonimprinted gene. Thus, NNAT is in an imprinted "microdomain," making this locus uniquely suited for the investigation of mechanisms of localized imprint regulation.
Evans
H K
HK
Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Wylie
A A
AA
Murphy
S K
SK
Jirtle
R L
RL
D000483:Alleles; D001483:Base Sequence; D014408:Biomarkers, Tumor; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D018899:CpG Islands / Q000235:genetics; D004247:DNA / Q000235:genetics / Q000378:metabolism; D019175:DNA Methylation; D005260:Female; D015870:Gene Expression; D018392:Genomic Imprinting; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D012313:RNA / Q000235:genetics / Q000378:metabolism; D014018:Tissue Distribution; D001749:Urinary Bladder Neoplasms / Q000235:genetics; D009363:Neoplasm Proteins
D014408:Biomarkers, Tumor; D004247:DNA; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012313:RNA; C413062:BLCA-4 protein, human; D009363:Neoplasm Proteins; C490237:NNAT protein, human