Open AccessMolecular characterization of TUB, TULP1 , and TULP 2, members of the novel tubby gene family and their possible relation to ocular diseases
Author(s) -
Michael A. North,
Juergen K Naggert,
Yingzhuo Yan,
Konrad Noben-Trauth,
Patsy M. Nishina
Publication year - 1997
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.94.7.3128
Subject(s) - biology , genetics , retinitis pigmentosa , gene , gene family , chromosome , rna splicing , conserved sequence , mutation , peptide sequence , genome , rna
Tubby, an autosomal recessive mutation, mapping to mouse chromosome 7, was recently found to be the result of a splicing defect in a novel gene with unknown function. Database searches revealed that sequences corresponding to the C terminus of thetub protein were highly conserved across a number of species including humans, mice,Caenorhabditis elegans, Arabidopsis, rice, and maize, and thattub was a member of a gene family. We describe here,TUB , the human homolog of mousetub , and two newly characterized family members,TULP1 for tubby like protein 1 andTULP2 . These three family members, which differ in the N-terminal half of the protein, share 60–90% amino acid identity across their conserved C-terminal region and have distinct tissue expression patterns. Alternatively spliced transcripts with 5′ variable sequences, three of which have been identified for the tubby gene, may mediate tissue specific expression. We also report thatTUB, TULP1 , andTULP2 map to human chromosomes 11p15.4, 6p21.3, and 19q13.1, respectively.TULP1 andTULP2 map within the minimal intervals identified for retinitis pigmentosa 14 on chromosome 6p21.3 and cone-rod dystrophy on chromosome 19q13.1.TULP1 andTULP2 , which are expressed in the retina, make excellent candidates for these ocular diseases as a mutation within thetub gene is known to lead to early progressive retinal degeneration.