Imprinting Regions Publications

Imprinting Loci



GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus



Expressed parental allele: maternal (M)/ paternal (P)


Chromosomal Region

dist 2

Orphanet Categories

Rare developmental defect during embryogenesis
Rare skin disease
Rare endocrine disease
Rare bone disease
Rare oncologic disease
Rare gynecologic or obstetric disease
Rare renal disease
Rare eye disease

Imprinting Gene Pubmed Publications

Displaying 1 - 10 of 137 Loci Publications
Pubmed ID Title Authors Journal
1 769 666 Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2----q13.3 in human by in situ hybridization. Levine MA, Modi WS, O'Brien SJ Genomics. 1991 Oct;11(2):478-9
1 302 014 Evolution of the mammalian G protein alpha subunit multigene family. Wilkie TM, Gilbert DJ, Olsen AS, Chen XN, Amatruda TT, Korenberg JR, Trask BJ, de Jong P, Reed RR, Simon MI Nature genetics. 1992 May;1(2):85-91
1 450 513 Mapping of the structural gene for S-adenosyl homocysteine hydrolase to mouse chromosome 2, and related sequences to chromosomes 8 and X. Pilz A, Le Tissier P, Moseley H, Peters J, Abbott C Mammalian genome : official journal of the International Mammalian Genome Society. 1992;3(11):633-6
3 092 218 Inhibitory and stimulatory G proteins of adenylate cyclase: cDNA and amino acid sequences of the alpha chains. Sullivan KA, Liao YC, Alborzi A, Beiderman B, Chang FH, Masters SB, Levinson AD, Bourne HR Proceedings of the National Academy of Sciences of the United States of America. 1986 Sep;83(18):6687-91
2 820 999 Molecular cloning of five GTP-binding protein cDNA species from rat olfactory neuroepithelium. Jones DT, Reed RR The Journal of biological chemistry. 1987 Oct 15;262(29):14241-9
3 117 797 Chromosomal assignment of the murine Gi alpha and Gs alpha genes. Implications for the obese mouse. Ashley PL, Ellison J, Sullivan KA, Bourne HR, Cox DR The Journal of biological chemistry. 1987 Nov 5;262(31):15299-301
2 902 634 Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Blatt C, Eversole-Cire P, Cohn VH, Zollman S, Fournier RE, Mohandas LT, Nesbitt M, Lugo T, Jones DT, Reed RR Proceedings of the National Academy of Sciences of the United States of America. 1988 Oct;85(20):7642-6
2 508 088 Diversity of the G-protein family: sequences from five additional alpha subunits in the mouse. Strathmann M, Wilkie TM, Simon MI Proceedings of the National Academy of Sciences of the United States of America. 1989 Oct;86(19):7407-9
8 270 638 Cell binding specificity of mouse R-cadherin and chromosomal mapping of the gene. Matsunami H, Miyatani S, Inoue T, Copeland NG, Gilbert DJ, Jenkins NA, Takeichi M Journal of cell science. 1993 Sep;106 ( Pt 1):401-9
8 020 960 Linkage mapping around the ragged (Ra) and wasted (wst) loci on distal mouse chromosome 2. Abbott C, Malas S, Pilz A, Pate L, Ali R, Peters J Genomics. 1994 Mar 1;20(1):94-8


Imprinting Regions

Region Uniparental Duplication Proximal Breakpoint Distal Breakpoint Effects Loci
dist 2 MatDp(dist2) T2Wa T28H Hypoactive, lethal Nespas, Gnas
dist 2 PatDp(dist2) T2Wa T28H Hyperactive, oedematous, lethal Nespas, Gnas

Imprinting Regions Pubmed Publications

Pubmed ID Publication Title Authors Journal
648 183 Complementation studies with mouse translocations. Searle AG, Beechey CV Cytogenetics and cell genetics. 1978;20(1-6):282-303
4 000 278 Differential activity of maternally and paternally derived chromosome regions in mice. Cattanach BM, Kirk M Nature. 1985 Jun 6-12;315(6019):496-8
8 812 454 Glomerular-specific imprinting of the mouse gsalpha gene: how does this relate to hormone resistance in albright hereditary osteodystrophy? Williamson CM, Schofield J, Dutton ER, Seymour A, Beechey CV, Edwards YH, Peters J Genomics. 1996 Sep 1;36(2):280-7
9 331 332 Genetic and functional analysis of neuronatin in mice with maternal or paternal duplication of distal Chr 2. Kikyo N, Williamson CM, John RM, Barton SC, Beechey CV, Ball ST, Cattanach BM, Surani MA, Peters J Developmental biology. 1997 Oct 1;190(1):66-77
9 254 699 Peg5/Neuronatin is an imprinted gene located on sub-distal chromosome 2 in the mouse. Kagitani F, Kuroiwa Y, Wakana S, Shiroishi T, Miyoshi N, Kobayashi S, Nishida M, Kohda T, Kaneko-Ishino T, Ishino F Nucleic acids research. 1997 Sep 1;25(17):3428-32
9 691 180 Localisation of the imprinted gene neuronatin, Nnat, confirms and refines the location of a second imprinting region on mouse chromosome 2. Williamson CM, Beechey CV, Ball ST, Dutton ER, Cattanach BM, Tease C, Ishino F, Peters J Cytogenetics and cell genetics. 1998;81(1):73-8
10 036 983 Imprinting of distal mouse chromosome 2 is associated with phenotypic anomalies in utero. Williamson CM, Beechey CV, Papworth D, Wroe SF, Wells CA, Cobb L, Peters J Genetical research. 1998 Dec;72(3):255-65
15 454 552 Interactions between imprinting effects in the mouse. Cattanach BM, Beechey CV, Peters J Genetics. 2004 Sep;168(1):397-413
16 575 158 Interactions between imprinting effects: summary and review. Cattanach BM, Beechey CV, Peters J Cytogenetic and genome research. 2006;113(1-4):17-23
7 959 780 Protective protein for beta-galactosidase, Ppgb, maps to the distal imprinting region of mouse chromosome 2 but is not imprinted. Williamson CM, Dutton ER, Beechey CV, Peters J Genomics. 1994 Jul 1;22(1):240-2


Imprinting Regions Publications

Journal Authors Publication Title
(1992) Mouse Genome 90:423-424 Beechey CV et al Mapping studies of distal chromosome 2 including the imprinting region
(1997) Mouse Genome 95:687-688 Williamson CM et al