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Deoxynucleoside triphosphate triphosphohydrolase SAMHD1

The SAMHD1 gene encodes a regulator of TNF-alpha which plays an important role in innate immunity. Mutations cause autosomal recessive Aicardi-Goutieres syndrome 5 and dominant familial chilblain lupus 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial Chilblain lupus 2
SAMHD1
Aicardi-Goutieres syndrome 5
SAMHD1

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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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.

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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Update: Aug. 14, 2020
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