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Gene Review:

GABRA5 - gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit alpha-5, Gamma-aminobutyric acid receptor subunit alpha-5

Kim, Y. et al., Glatt, K. et al., Greger, V. et al., Kedda, M.A. et al., Ritchie, R.J. et al., et al.

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Disease relevance of GABRA5

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions [1].
A 570-kb contig encompassing GABRB3 and GABRA5 has been constructed in P1, lambda phage, and PAC clones [2].
Lambda and P1 phage clones surrounding both ends of GABRG3 were isolated; the clones derived from the 5' end of GABRG3 were linked to an existing phage contig spanning the 3' end of GABRA5 [3].
The authors report a boy with autism, epilepsy, ataxia and an interstitial duplication of 15q, in whom molecular analysis reveals duplication of the GABRA5 and GABRB3 genes on the maternally derived chromosome [4].

Psychiatry related information on GABRA5

Several genetic studies have revealed that bipolar disorders are linked with the chromosomal locus of 15q11-q13, where the gamma-aminobutyric acid (GABA) receptor alpha5 subunit gene (GABRA5) locates [5].
Three of the GABAA receptor subunit genes (GABRB3, GABRA5 and GABRG3) form a cluster on chromosome 15q11-q13, in a region that has been genetically associated with autistic disorder (AutD) [6].
Association between the GABA(A) receptor alpha5 subunit gene locus (GABRA5) and bipolar affective disorder [7].

High impact information on GABRA5

We report a 50-60 kb domain of allele-specific replication between the gamma-aminobutyric acid receptor subunit beta 3 (GABRB3) and alpha 5 (GABRA5) genes [8].
The two loci, GABRA5 and D15S24, flanking D15S12, are both hypervariable, and many different haplotypes were observed with the alleles at the three loci on both ty-pos OCA-associated chromosomes and "normal" chromosomes.(ABSTRACT TRUNCATED AT 250 WORDS)[9]
GABRB3 encompasses approximately 250 kb, while GABRA5 is contained within 70 kb [10].
Moreover, we have found replication asynchrony across the GABRA5 duplication, suggesting for the first time that the imprinted part of chromosome 15q extends proximal of the region commonly deleted in Angelman and Prader-Willi syndromes [11].
GABRB3 spans 250 kb of DNA and is organized into 9 exons that range from 68 to 504 bp, while GABRA5 is encoded by 11 exons (65 to 924 bp in length) within 86 kb [2].

Biological context of GABRA5

The genes encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits beta 3 (GABRB3), alpha 5 (GABRA5), and gamma 3 (GABRG3) map to chromosome 15q11-q13 [2].
The GABRA5 promoter regions lacked TATA and CCAAT boxes but contained several other consensus transcriptional factor recognition sequences [12].
The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation [3].
A combination of cDNA library screening and 5' RACE analysis led to identification of three distinct mRNA isoforms of GABRA5 in human adult and fetal brain tissues, each of which differs only in the noncoding 5' UTR sequence [12].
Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region [12].

Anatomical context of GABRA5

Several genes/transcripts (for example, GABRA5, GABRB3) had increased expression in UPD cell lines compared with deletion, but less than controls indicating paternal bias [13].

Other interactions of GABRA5

Previous mapping data placed several pseudogenes, NF1, IgH D/V, and GABRA5 in the pericentromeric region of proximal 15q [14].
Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes [15].

Analytical, diagnostic and therapeutic context of GABRA5

Northern blot analysis showed that the expression of GABRA5 was not only tissue specific but region specific in brain [12].
GABRA5 and GABRB3 subunit genes were genotyped using DNA gained from peripheral blood samples by Polymerase Chain Reactions (PCR) [16].
Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy [17].

References

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Knoll, J.H., Sinnett, D., Wagstaff, J., Glatt, K., Wilcox, A.S., Whiting, P.M., Wingrove, P., Sikela, J.M., Lalande, M. Hum. Mol. Genet. (1993) [Pubmed]
Structure and organization of GABRB3 and GABRA5. Glatt, K., Glatt, H., Lalande, M. Genomics (1997) [Pubmed]
The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation. Greger, V., Knoll, J.H., Woolf, E., Glatt, K., Tyndale, R.F., DeLorey, T.M., Olsen, R.W., Tobin, A.J., Sikela, J.M., Nakatsu, Y. Genomics (1995) [Pubmed]
Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Bundey, S., Hardy, C., Vickers, S., Kilpatrick, M.W., Corbett, J.A. Developmental medicine and child neurology. (1994) [Pubmed]
The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. Otani, K., Ujike, H., Tanaka, Y., Morita, Y., Katsu, T., Nomura, A., Uchida, N., Hamamura, T., Fujiwara, Y., Kuroda, S. Neurosci. Lett. (2005) [Pubmed]
Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. Menold, M.M., Shao, Y., Wolpert, C.M., Donnelly, S.L., Raiford, K.L., Martin, E.R., Ravan, S.A., Abramson, R.K., Wright, H.H., Delong, G.R., Cuccaro, M.L., Pericak-Vance, M.A., Gilbert, J.R. J. Neurogenet. (2001) [Pubmed]
Association between the GABA(A) receptor alpha5 subunit gene locus (GABRA5) and bipolar affective disorder. Papadimitriou, G.N., Dikeos, D.G., Karadima, G., Avramopoulos, D., Daskalopoulou, E.G., Vassilopoulos, D., Stefanis, C.N. Am. J. Med. Genet. (1998) [Pubmed]
Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution. LaSalle, J.M., Lalande, M. Nat. Genet. (1995) [Pubmed]
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. Kedda, M.A., Stevens, G., Manga, P., Viljoen, C., Jenkins, T., Ramsay, M. Am. J. Hum. Genet. (1994) [Pubmed]
High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Sinnett, D., Wagstaff, J., Glatt, K., Woolf, E., Kirkness, E.J., Lalande, M. Am. J. Hum. Genet. (1993) [Pubmed]
A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Ritchie, R.J., Mattei, M.G., Lalande, M. Hum. Mol. Genet. (1998) [Pubmed]
Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. Kim, Y., Glatt, H., Xie, W., Sinnett, D., Lalande, M. Genomics (1997) [Pubmed]
Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. Bittel, D.C., Kibiryeva, N., Talebizadeh, Z., Butler, M.G. J. Med. Genet. (2003) [Pubmed]
Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. Fantes, J.A., Mewborn, S.K., Lese, C.M., Hedrick, J., Brown, R.L., Dyomin, V., Chaganti, R.S., Christian, S.L., Ledbetter, D.H. J. Med. Genet. (2002) [Pubmed]
Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes. Guipponi, M., Thomas, P., Girard-Reydet, C., Feingold, J., Baldy-Moulinier, M., Malafosse, A. Am. J. Med. Genet. (1997) [Pubmed]
Possible association between childhood absence epilepsy and the gene encoding GABRB3. Feucht, M., Fuchs, K., Pichlbauer, E., Hornik, K., Scharfetter, J., Goessler, R., Füreder, T., Cvetkovic, N., Sieghart, W., Kasper, S., Aschauer, H. Biol. Psychiatry (1999) [Pubmed]
Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy. Lü, J.J., Zhang, Y.H., Pan, H., Chen, Y.C., Liu, X.Y., Jiang, Y.W., Bao, X.H., Shen, Y., Wu, H.S., Xu, K.M., Wu, X.R. Chin. Med. J. (2004) [Pubmed]

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