Taxon:

Human

Gene:

PLAGL1 (ZAC, LOT1)

Chromosome:

06

Location:

6q24

Description:

PLAGL1 (ZAC, LOT1 pleomorphic adenoma of the salivary gland gene like 1; zinc finger protein which regulates apoptosis and cell cycle arrest ) is expressed exclusively from the paternal allele in a most tissues. Monoallelic expression has been observed in human placenta (Kamiya M et al, 2000; Arima T et al, 2001) in six human fetal tissues (heart, kidney, muscle, spinal cord, adrenal gland and lung) (Kamiya M et al, 2000) and in skin fibroblasts (Mackay DJ et al, 2002). However, biallelic expression has been noted in peripheral blood leukocytes (Kamiya M et al, 2000; (MacKay DJ et al, 2002). Tissue specific imprinting depends on the variable utilisation of the imprinted P1 promoter, or the unimprinted P2 promoter (Valleley EM et al, 2007).
It is a strong candidate gene for transient neonatal diabetes. Five of 6 TNDM cases showed loss of maternal methylation in a differentially methylated region, a putative imprinting control region that overlaps ZAC and HYMAI (chr6:144370610-144371540 NCBI Build 36.1) (Arima T et al, 2001).

Category:

Imprinted genes

Record:

191

Last Modified 12/20/2016

Links:

Gene   OMIM   


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