Imprinted Gene Catalogue Records

The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison

Detailed entry for Gene:

Gnas
GNAS1
Gs-alpha
(see also, Gnasxl, Nesp)

Chromosome:

Human Chr20q13.2-q13.3
Mouse Chr2 (distal)

Links:

OMIM Human Entry for GNAS

Imprinting:

GNAS1 is variably imprinted in humans (Hayward BE et al, 1998; Hayward BE et al, 1998); and other transcripts in the complex GNAS1 locus are also imprinted (see Nesp, Gnasxl). The expressivity of GNAS1 mutations depends on parent-of-origin and the murine Gs-alpha locus is imprinted based on knockout experiments (Yu S et al, 2001; Yu S et al, 2000; Yu S et al, 1998).

Gene Product:

Gnas1 encodes the alpha subunit of a major heterotrimeric Gs signaling protein. However, the Gnas1 locus is complex, with multiple gene products derived from alternative promoters, alternative splicing and alternative reading frames (see Gnasxl, Nesp); reviewed in (Lalande M, 2001).

Functional Data:

The Gs-alpha subunit is a component of the heterotrimeric stimulatory G-protein that couples multiple hormone receptors (parathyroid hormone receptor and others) to adenylyl cyclase. The associated human genetic disorders are complex: GNAS1 mutations (maternal transmission) in pseudo-hypoparathyroidism type Ia (PHP-Ia); in contrast, pseudo-pseudo-hypoparathyroidism (PPHP) is seen with paternal transmission of GNAS1 mutations. Albright hereditary osteodystrophy is a more general syndrome, seen with either type of transmission of GNAS1 mutations (Lalande M, 2001; Weinstein LS et al, 1999). Gs-alpha knockout mice show an imprinted phenotype, with increased insulin-sensitivity and adipocyte hypertrophy in the null animals (Yu S et al, 2001; Yu S et al, 2000; Yu S et al, 1998). Mice with MatDp2 affecting the distal region containing Gnas are hypoactive and die within a few hours of birth; mice with PatDp2 are hyperactive and survive for several days after birth, but the responsible gene(s) are not known; see (Williamson CM et al, 1998) and references therein.

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Detailed entry for Gene:	Gnas GNAS1 Gs-alpha (see also, Gnasxl, Nesp)	Chromosome:	Human Chr20q13.2-q13.3 Mouse Chr2 (distal)
Links:	OMIM Human Entry for GNAS
Imprinting:	GNAS1 is variably imprinted in humans (Hayward BE et al, 1998; Hayward BE et al, 1998); and other transcripts in the complex GNAS1 locus are also imprinted (see Nesp, Gnasxl). The expressivity of GNAS1 mutations depends on parent-of-origin and the murine Gs-alpha locus is imprinted based on knockout experiments (Yu S et al, 2001; Yu S et al, 2000; Yu S et al, 1998).
Gene Product:	Gnas1 encodes the alpha subunit of a major heterotrimeric Gs signaling protein. However, the Gnas1 locus is complex, with multiple gene products derived from alternative promoters, alternative splicing and alternative reading frames (see Gnasxl, Nesp); reviewed in (Lalande M, 2001).
Functional Data:	The Gs-alpha subunit is a component of the heterotrimeric stimulatory G-protein that couples multiple hormone receptors (parathyroid hormone receptor and others) to adenylyl cyclase. The associated human genetic disorders are complex: GNAS1 mutations (maternal transmission) in pseudo-hypoparathyroidism type Ia (PHP-Ia); in contrast, pseudo-pseudo-hypoparathyroidism (PPHP) is seen with paternal transmission of GNAS1 mutations. Albright hereditary osteodystrophy is a more general syndrome, seen with either type of transmission of GNAS1 mutations (Lalande M, 2001; Weinstein LS et al, 1999). Gs-alpha knockout mice show an imprinted phenotype, with increased insulin-sensitivity and adipocyte hypertrophy in the null animals (Yu S et al, 2001; Yu S et al, 2000; Yu S et al, 1998). Mice with MatDp2 affecting the distal region containing Gnas are hypoactive and die within a few hours of birth; mice with PatDp2 are hyperactive and survive for several days after birth, but the responsible gene(s) are not known; see (Williamson CM et al, 1998) and references therein.