Taxon:

Human

Gene:

ZNF331 (ZNF463) (provisional evidence)

Chromosome:

19

Location:

19q13.42 53.5 Mb

Description:

Data regarding the imprinting of ZNF331 (ZNF463; zinc finger protein 331) are contradictory.
It was reported to be maternally expressed in lymphoblastoid cell lines from five children in a single CEPH family. Six unrelated individuals showed monoallelic expression of SNPs in the 3' end of ZNF331, but biallelic expression of SNP in the 5' UTR (Pant PV et al, 2006).
In contrast the same group later reported a pattern of differential allelic expression that was suggestive of paternal expression (Pollard KS et al, 2008).
Diplas AI et al (2009) reported that ZNF331 was expressed but not imprinted in the placenta.
Daelemans C et al (2010) reported imprinting of ZNF331 with maternal expression in human placenta. Using two SNPs on the Illumina system, rs8100247 (exon 1, 5'UTR) and rs12982082 (exon 2, 5'UTR), ZNF331 showed a consistent pattern of maternal origin for the expressed allele. RT-PCR amplification and Sanger sequencing of SNPs in two exons of the ZNF331 transcript (exon 1, 5'UTR and exon 7, CDS) confirmed the maternal expression.
Petre G et al (2018) reported a case with IUGR associated with a paternally inherited duplication of a 1.06-Mb region containing ZNF331. The methylation pattern of two methylation-specific MLPA probes within one of the CpG islands was consistent with maternal methylation, and the authors assumed paternal expression based on previous literature.
Three reference sequence transcripts of ZNF331 are known. The apparent discrepancies in the parent-of-origin may be attributable to isoform specific imprinting (additional data are needed). Biallelic expression was detected in the 5'UTR of the most 5' transcript (NM_018555).

Category:

Imprinted genes

Record:

1106

Last Modified 9/24/2018

Links:

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