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. This type of diabetes is also called 6q24 associated.
Genetests:
Related Diseases:
References:
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Temple IK et al. (1996) Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.
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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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Varrault A et al. (2006) Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth.
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Arima T et al. (2006) The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.
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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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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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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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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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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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10. |
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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11. |
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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12. |
Temple IK et al. (1995) An imprinted gene(s) for diabetes?
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13. |
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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14. |
Orphanet article
Orphanet ID 159813
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NCBI article
NCBI 5325
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OMIM.ORG article
Omim 603044
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17. |
Wikipedia article
Wikipedia EN (PLAGL1)
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Update: Aug. 14, 2020