Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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 Überexpressin 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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Methylisierungsanalyse
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Transienter neonataler Diabetes mellitus 1
HYMAI
PLAGL1
ZFP57

Referenzen:

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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