title: Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
abstract: Our laboratory recently reported that mutations in the human I-kappaB kinase-associated protein (IKBKAP) gene are responsible for familial dysautonomia (FD). Interestingly, amino acid substitutions in the IKAP correlate with increased risk for childhood bronchial asthma. Here, we report the cloning and genomic characterization of the mouse Ikbkap gene, the homolog of human IKBKAP. Like its human counterpart, Ikbkap encodes a protein of 1332 amino acids with a molecular weight of approximately 150 kDa. The Ikbkap gene product, Ikap, contains 37 exons that span approximately 51 kb. The protein shows 80% amino acid identity with human IKAP. It shows very high conservation across species and is homologous to the yeast Elp1/Iki3p protein, which is a member of the Elongator complex. The Ikbkap gene maps to chromosome 4 in a region that is syntenic to human chromosome 9q31.3. Because no animal model of FD currently exists, cloning of the mouse Ikbkap gene is an important first step toward creating a mouse model for FD. In addition, cloning of Ikbkap is crucial to the characterization of the putative mammalian Elongator complex.
authors.affiliation: Harvard Institute of Human Genetics and Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: M P
authors.initials: MP
authors.lastname: Cuajungco
authors.forename: M
authors.initials: M
authors.lastname: Leyne
authors.forename: J
authors.initials: J
authors.lastname: Mull
authors.forename: S P
authors.initials: SP
authors.lastname: Gill
authors.forename: J F
authors.initials: JF
authors.lastname: Gusella
authors.forename: S A
authors.initials: SA
authors.lastname: Slaugenhaupt
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000032:analysis / Q000235:genetics; D004402:Dysautonomia, Familial / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins; D051379:Mice; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D002352:Carrier Proteins; D018076:DNA, Complementary; C491968:Ikbkap protein, mouse; D047908:Intracellular Signaling Peptides and Proteins