Zinc-Finger-Protein PLAGL1
Das PLAGL1-Gen kodiert einen Transkriptionsfaktor. Das Gen besitzt einen gemeinsamen Promotor mit dem HYMAI-Gen. Dieser Promotor zeigt in maternales Imprinting, dass wenn es nicht vorhanden ist zu einer Überexpression führt und die Entwicklung eines transitorischen neonatalen Diabetes zur Folge hat. Weitere paternale Überexpressionen, die einen solchen Diabetes zur Folge haben, sind unipartale Disomie und Genduplikationen. Der durch molekulargenetische Veränderungen in diesem Promotor hervorgerufene neonatale Diabetes wird auch als 6q24-assoziierter Diabetes bezeichnet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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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. |
Temple IK et al. (1995) An imprinted gene(s) for diabetes?
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4. |
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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5. |
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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6. |
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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7. |
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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8. |
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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9. |
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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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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14. |
Orphanet article
Orphanet ID 159813
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15. |
NCBI article
NCBI 5325
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16. |
OMIM.ORG article
Omim 603044
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Update: 14. August 2020