Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Zinc finger protein PLAGL1

The PLAGL1 gene encodes a transcription factor. It shares the promotor with the HYMAI, which is maternally imprinted. Loss of imprinting results in an overexpression of the gene, and a transient neonatal diabetes mellitus ensues. Other paternal overexpression syndromes with same condition include uniparental disomy and gene duplications.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA
Clinic Method Methylation test
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Transient neonatal diabetes mellitus 1
HYMAI
PLAGL1
ZFP57

References:

1.

Temple IK et. al. (1995) An imprinted gene(s) for diabetes?

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2.

Temple IK et al. (1996) Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.

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3.

Abdollahi A et. al. (1997) Identification of a zinc-finger gene at 6q25: a chromosomal region implicated in development of many solid tumors.

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4.

Abdollahi A et. al. (1997) Identification of a gene containing zinc-finger motifs based on lost expression in malignantly transformed rat ovarian surface epithelial cells.

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5.

Spengler D et. al. (1997) Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain.

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6.

Varrault A et. al. (1998) hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer.

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7.

Kamiya M et. al. (2000) The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes.

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8.

Bilanges B et. al. (2001) Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities.

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9.

Arima T et al. (2001) A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

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10.

Mackay DJ et. al. (2002) Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.

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11.

Arima T et. al. (2006) The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.

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12.

Varrault A et. al. (2006) Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth.

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13.

Valleley EM et. al. (2007) Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.

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Update: Sept. 26, 2018