Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Deoxynucleosid-Triphosphate-Triphosphohydrolase SAMHD1

Das SAMHD1-Gen kodiert ein Protein, welches in der Steuerung der angeborenen Immunität insbesondere der Regulation von TNF-alpha eine wichtige Rolle spielt. Mutationen führe zum autosomal rezessiven Aicardi-Goutières-Syndrom 5 und zum dominanten familiären Chilblain-Lupus 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

familiärer Chilblain-Lupus 2
SAMHD1
Aicardi-Goutières-Syndrom 5
SAMHD1

Referenzen:

1.

Li N et al. (2000) Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells.

[^]
2.

Rice GI et al. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

[^]
3.

Dale RC et al. (2010) Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

[^]
4.

Leshinsky-Silver E et al. (2011) A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.

[^]
5.

Ravenscroft JC et al. (2011) Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

[^]
6.

Laguette N et al. (2011) SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx.

[^]
7.

Hrecka K et al. (2011) Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein.

[^]
8.

Goldstone DC et al. (2011) HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.

[^]
9.

Lim ES et al. (2012) The ability of primate lentiviruses to degrade the monocyte restriction factor SAMHD1 preceded the birth of the viral accessory protein Vpx.

[^]
10.

Laguette N et al. (2012) Evolutionary and functional analyses of the interaction between the myeloid restriction factor SAMHD1 and the lentiviral Vpx protein.

[^]
11.

Lahouassa H et al. (2012) SAMHD1 restricts the replication of human immunodeficiency virus type 1 by depleting the intracellular pool of deoxynucleoside triphosphates.

[^]
12.

Rehwinkel J et al. (2013) SAMHD1-dependent retroviral control and escape in mice.

[^]
13.

Behrendt R et al. (2013) Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response.

[^]
14.

Crow YJ et al. (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

[^]
15.

Coquel F et al. (2018) SAMHD1 acts at stalled replication forks to prevent interferon induction.

[^]
Update: 17. Oktober 2019