Elsevier

Genomics

Volume 41, Issue 1, 1 April 1997, Pages 63-69
Genomics

Regular Article
Structure and Organization of GABRB3 and GABRA5☆

https://doi.org/10.1006/geno.1997.4639Get rights and content

Abstract

The genes encoding the γ-aminobutyric acid (GABA) type-A receptor subunits β3 (GABRB3), α5 (GABRA5), and γ3 (GABRG3) map to chromosome 15q11–q13. The three genes are contained within roughly 800 kb of the distal part of the imprinted Prader–Willi and Angelman syndrome region. A 570-kb contig encompassing GABRB3 and GABRA5 has been constructed in P1, λ phage, and PAC clones. 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. The exon/intron borders for both genes have been characterized, and primers have been designed to amplify each of the individual exons. Two reference STR markers have been positioned in the contig. The reference STR for GABRB3 is in fact located at least 60 kb beyond the 3′ terminus of GABRB3, while D15S97 is contained within intron 4 of GABRB3. The detailed physical map of this GABAAreceptor subunit gene cluster should not only be useful in genetic studies of the 15q11–q13 region, but will also be important for investigating the evolution and expression of the GABAAreceptor gene superfamily.

References (40)

  • E.F. Kirkness et al.

    A strong promoter element is located between alternative exons of a gene encoding the γ-aminobutyric-type A receptor β3 subunit (GABRB3)

    J. Biol. Chem.

    (1993)
  • E.F. Kirkness et al.

    Isolation, characterization and localization of human genomic DNA encoding the β1-subunit of the GABAA receptor (GABRB1)

    Genomics

    (1991)
  • P.J. McLean et al.

    Mapping of the α4 subunit gene (GABRA4) to human chromosome 4 defines an α2-α4-β1-γ1 gene cluster: Further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster

    Genomics

    (1995)
  • D. Sinnett et al.

    Identification of a putative DNA replication origin in the γ-aminobutyric acid receptor β3 and α5 gene cluster on human chromosome 15q11–q13, a region associated with parental imprinting and allele-specific replication timing

    Gene

    (1996)
  • J. Wagstaff et al.

    The GABAA receptor β3 subunit gene: Characterization of a human cDNA from chromosome 15q11–q13 and mapping to a region of conserved synteny on mouse chromosome 7

    Genomics

    (1991)
  • J.A. Warrington et al.

    A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5

    Genomics

    (1992)
  • J.A. Warrington et al.

    High-resolution physical mapping of human 5q31–q33 using three methods: Radiation hybrid mapping, interphase fluorescencein situ

    Genomics

    (1994)
  • M.V. Bell et al.

    Physical linkage of a GABAA

    Am. J. Hum. Genet.

    (1989)
  • C.T. Culiat et al.

    Deficiency of the beta3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice

    Nature Genet.

    (1995)

    • Cited by (0)

    ☆

    N. N. Osborne, Ed.

    1

    To whom correspondence should be addressed at the Genetics Division, Children's Hospital, 300 Longwood Avenue, Boston, MA 02115. Telephone: (617) 355-7387. Fax: (617) 355-7588.

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