title: A truncated splice variant of human BARD1 that lacks the RING finger and ankyrin repeats.
abstract: BARD1 is a crucial partner of the breast and ovarian tumor suppressor BRCA1 required for ubiquitin ligase activity and for reciprocal stabilization in cells. We report here an alternatively spliced human BARD1 mRNA variant (BARD1DeltaRIN) isolated from a HeLa cell cDNA library. It is characterized by deletion of exons 2-6 that encode most of the RING finger domain and the entire span of ankyrin repeats. DeltaRIN transcript was detected in all breast cancer-cell lines studied although its protein expression level was low. DeltaRIN does not interact with BRCA1, whereas it interacts with and colocalizes with CstF-50 to cytoplasmic dots. Hence, a deletion variant of BARD1 occurs in cells and may play a distinct role with CstF-50.
authors.affiliation: Division of Breast and Endocrine Surgery, Department of Surgery, St Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki 216-8511, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Tsuzuki
authors.forename: Wenwen
authors.initials: W
authors.lastname: Wu
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nishikawa
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Hayami
authors.forename: Daisuke
authors.initials: D
authors.lastname: Oyake
authors.forename: Yukari
authors.initials: Y
authors.lastname: Yabuki
authors.forename: Mamoru
authors.initials: M
authors.lastname: Fukuda
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Ohta
mesh_terms: D000595:Amino Acid Sequence; D017089:Ankyrin Repeat; D019313:BRCA1 Protein / Q000502:physiology; D045744:Cell Line, Tumor; D039241:Cleavage Stimulation Factor / Q000032:analysis; D003593:Cytoplasm / Q000737:chemistry; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D025521:Tumor Suppressor Proteins / Q000737:chemistry* / Q000235:genetics / Q000502:physiology; D044767:Ubiquitin-Protein Ligases / Q000737:chemistry* / Q000235:genetics / Q000502:physiology
chemical_list: D019313:BRCA1 Protein; D039241:Cleavage Stimulation Factor; D025521:Tumor Suppressor Proteins; C102449:BARD1 protein, human; D044767:Ubiquitin-Protein Ligases