Molecular cloning, sequence identification and tissue expression profile of three novel sheep (Ovis aries) genes - BCKDHA, NAGA and HEXA

Biological Research

Volumn 42, Issue 1, 2009, Pages 69-77

  Liu, G Y ^a   Gao, S Z ^a  

^a YUNNAN AGRICULTURAL UNIVERSITY   (China)

Author keywords

BCKDHA; HEXA; NAGA; Sheep; Tissue expression

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); ALPHA N ACETYLGALACTOSAMINIDASE; BETA N ACETYLHEXOSAMINIDASE A;

AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; CHICKEN; CHIMPANZEE; COW; EXPRESSED SEQUENCE TAG; GENE AMPLIFICATION; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; GENE LOCATION; HUMAN; MACACA; MOLECULAR CLONING; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; ORANG UTAN; PHYLOGENETIC TREE; RAT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; SHEEP; TISSUE DISTRIBUTION;

BOVINAE; MACACA FASCICULARIS; MAMMALIA; OVIS ARIES; PAN; PONGO PYGMAEUS PYGMAEUS; RATTUS;

EID: 70350005226     PISSN: 07169760     EISSN: 07176287     Source Type: Journal    
DOI: 10.4067/S0716-97602009000100007     Document Type: Article

References (13)

1. CHABÁS A, DUQUE J, GORT L. A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom. J Inherit Metab Dis. 2007 Feb; 30(1): 108
2. CHINSKY J, APPEL M, ALMASHANU S, COSTEAS P, AMBULOS N JR, CARMI R. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1 alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Hum Mutat. 1998, 12(2): 136
3. FLASCHKER N, FEYEN O, FEND S, SIMON E, SCHADEWALDT P, WENDEL U. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. J Inherit Metab Dis. 2007, 30(6): 903-9
4. HARDISON RC. Comparative genomics. PLoS Biol. 2003,1(2): E58
5. HERRMANN T, SCHINDLER D, TABE H, ONODERA O, IGARASHI S, POLACK A, ZEHNPFENNIG D, SHOJI TSUJI. Molecular cloning, structural organization, sequence, chromosomal assignment, and expression of the mouse alpha-N-acetylgalactosaminidase gene. Gene. 1998 May 12; 211(2): 205-14
6. KANEKURA T, SAKURABA H, MATSUZAWA F, AIKAWA S, DOI H, HIRABAYASHI Y, YOSHII N, FUKUSHIGE T, KANZAKI T. Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan; 37(1): 15-20
7. KARPATI M, GAZIT E, GOLDMAN B, FRISCH A, COLOMBO R, PELEG L. Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor. Neurogenetics. 2004 Feb; 5(1): 35-40
8. LIU GY, XIONG YZ.Isolation, sequence analysis and expression profile of a novel sheep gene, NIP7, differentially expressed in the Longissimus dorsi muscle tissues from Meishan, Meishan x Large White cross and Large White sheeps.Mol Biol Rep. 2007, 344: 213-219
9. LIU YG, XIONG YZ, DENG CY, ZUO B, ZHANG JH. Comparison of gene expression patterns in Longissimus dorsi of sheeps between the high-parent heterosis cross combination Landrace◇Large White and the mid-parent heterosis cross combination Large White◇Meishan. Asian-Aust J Anim Sci. 2004,17(9): 1192-1196
10. MCGINNISS MJ, BROWN DH, FULWILER A, MARTEN M, LIM-STEELE JS, KABACK MM. Eight novel mutations in the HEXA gene. Genet Med. 2002 May-Jun; 4(3): 158-61
11. MIKLYAEVA EI, DONG W, BUREAU A, FATTAHIE R, XU Y, SU M, FICK GH, HUANG JQ, IGDOURA S, HANAI N, GRAVEL RA.Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.Brain Res. 2004 Mar 19; 1001(1-2): 37-50
12. NAIK MT, HUANG TH. Conformational stability and thermodynamic characterization of the lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase. Protein Sci. 2004,13(9): 2483-92
13. PESSOA-PUREUR R, WAJNER M. Cytoskeleton as a potential target in the neuropathology of maple syrup urine disease: insight from animal studies.J Inherit Metab Dis. 2007,30(5):664-72.