Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

NESPAS gene

NESPAS is an atisense transcript at the GNAS locus, which is paternally imprinted and not translated. The transcript is involved in regulation of alllpha subunit G protein expression. Imprinting defects cause pseudohypoparathyroidism type 1B.

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
Clinic Method Methylation test
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pseudohypoparathyroidism type IB
GNAS
GNAS-AS1
STX16

References:

1.

Wroe SF et al. (2000) An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus.

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2.

Hayward BE et al. (2000) An imprinted antisense transcript at the human GNAS1 locus.

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3.

Bastepe M et al. (2005) Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

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4.

Williamson CM et al. (2006) Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster.

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5.

Tobi EW et al. (2009) DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific.

external link
Update: Nov. 3, 2022
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