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
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).