Molecular cloning and characterization of the mouse and human TUSP gene, a novel member of the tubby superfamily

Quan Zhen Li, Cong Yi Wang, Jin Da Shi, Qing Guo Ruan, Sarah Eckenrode, Abdoreza Davoodi-Semiromi, Thomas Kukar, Yunrong Gu, Wei Lian, Donghai Wu, Jin-Xiong She

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

We report here the cloning and characterization of a novel gene belonging to the tubby superfamily proteins (TUSP) in mouse and human. The mouse Tusp cDNA is 9120 bp in length and encodes a deduced protein of 1547 amino acids, while the human TUSP gene is 11,127 bp and encodes a deduced protein of 1544 amino acids. The human and mouse genes are 87% identical for their nucleotide sequences and 85% identical for their amino acid sequences. The protein sequences of these genes are 40-48% identical to other tubby family proteins at the C-terminal conserved 'tubby domain'. In addition, the TUSP proteins contain a tubby signature motif (FXGRVTQ), two bipartite nuclear localization signals (NLSs) at the C-terminal, two proline-rich regions, one WD40 repeat region and one suppressor of cytokines signaling domain. Transfection assay with green fluorescent protein-tagged TUSP expression constructs showed that the complete TUSP protein and the N-terminal portion of TUSP are localized in the cytoplasm but the C-terminal portion with the two NLSs produced distinct dots or spots localized in the cytoplasm. Northern blotting analysis showed that the major transcript with the complete coding sequence is expressed mainly in the brain, skeletal muscle, testis and kidney. Radiation hybrid mapping localized the mouse gene to chromosome 17q13 and the human TUSP gene to chromosome 6q25-q26 near the type 1 diabetes gene IDDM5. However, association analysis in diabetic families with a polymorphic microsatellite marker did not show any evidence for association between TUSP and type 1 diabetes. The precise biological function of the tubby superfamily genes is still unknown; the highly conserved tubby domain in different species, however, suggests that these proteins must have fundamental biological functions in a wide range of multi-cellular organisms.

Original languageEnglish (US)
Pages (from-to)275-284
Number of pages10
JournalGene
Volume273
Issue number2
DOIs
StatePublished - Aug 8 2001
Externally publishedYes

Fingerprint

Molecular Cloning
Genes
Proteins
Nuclear Localization Signals
Type 1 Diabetes Mellitus
human TUB protein
Cytoplasm
Chromosomes
Radiation Hybrid Mapping
Amino Acids
Protein C
Green Fluorescent Proteins
Proline
Northern Blotting
Microsatellite Repeats
Transfection
Testis
Organism Cloning
Amino Acid Sequence
Skeletal Muscle

Keywords

  • Cloning
  • Expression
  • Gene family
  • IDDM
  • Mapping
  • Obesity
  • Tubby

ASJC Scopus subject areas

  • Genetics

Cite this

Molecular cloning and characterization of the mouse and human TUSP gene, a novel member of the tubby superfamily. / Li, Quan Zhen; Wang, Cong Yi; Shi, Jin Da; Ruan, Qing Guo; Eckenrode, Sarah; Davoodi-Semiromi, Abdoreza; Kukar, Thomas; Gu, Yunrong; Lian, Wei; Wu, Donghai; She, Jin-Xiong.

In: Gene, Vol. 273, No. 2, 08.08.2001, p. 275-284.

Research output: Contribution to journalArticle

Li, QZ, Wang, CY, Shi, JD, Ruan, QG, Eckenrode, S, Davoodi-Semiromi, A, Kukar, T, Gu, Y, Lian, W, Wu, D & She, J-X 2001, 'Molecular cloning and characterization of the mouse and human TUSP gene, a novel member of the tubby superfamily', Gene, vol. 273, no. 2, pp. 275-284. https://doi.org/10.1016/S0378-1119(01)00582-0
Li, Quan Zhen ; Wang, Cong Yi ; Shi, Jin Da ; Ruan, Qing Guo ; Eckenrode, Sarah ; Davoodi-Semiromi, Abdoreza ; Kukar, Thomas ; Gu, Yunrong ; Lian, Wei ; Wu, Donghai ; She, Jin-Xiong. / Molecular cloning and characterization of the mouse and human TUSP gene, a novel member of the tubby superfamily. In: Gene. 2001 ; Vol. 273, No. 2. pp. 275-284.
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abstract = "We report here the cloning and characterization of a novel gene belonging to the tubby superfamily proteins (TUSP) in mouse and human. The mouse Tusp cDNA is 9120 bp in length and encodes a deduced protein of 1547 amino acids, while the human TUSP gene is 11,127 bp and encodes a deduced protein of 1544 amino acids. The human and mouse genes are 87{\%} identical for their nucleotide sequences and 85{\%} identical for their amino acid sequences. The protein sequences of these genes are 40-48{\%} identical to other tubby family proteins at the C-terminal conserved 'tubby domain'. In addition, the TUSP proteins contain a tubby signature motif (FXGRVTQ), two bipartite nuclear localization signals (NLSs) at the C-terminal, two proline-rich regions, one WD40 repeat region and one suppressor of cytokines signaling domain. Transfection assay with green fluorescent protein-tagged TUSP expression constructs showed that the complete TUSP protein and the N-terminal portion of TUSP are localized in the cytoplasm but the C-terminal portion with the two NLSs produced distinct dots or spots localized in the cytoplasm. Northern blotting analysis showed that the major transcript with the complete coding sequence is expressed mainly in the brain, skeletal muscle, testis and kidney. Radiation hybrid mapping localized the mouse gene to chromosome 17q13 and the human TUSP gene to chromosome 6q25-q26 near the type 1 diabetes gene IDDM5. However, association analysis in diabetic families with a polymorphic microsatellite marker did not show any evidence for association between TUSP and type 1 diabetes. The precise biological function of the tubby superfamily genes is still unknown; the highly conserved tubby domain in different species, however, suggests that these proteins must have fundamental biological functions in a wide range of multi-cellular organisms.",
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AU - Eckenrode, Sarah

AU - Davoodi-Semiromi, Abdoreza

AU - Kukar, Thomas

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