The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

APOB  -  apolipoprotein B

Homo sapiens

Synonyms: Apo B-100, Apolipoprotein B-100, FLDB, LDLCQ4
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of APOB


Psychiatry related information on APOB

  • Furthermore, we investigated the impact of APOB and APOE polymorphisms on interindividual variation in total cholesterol level in the 2 Italian samples, which differ in dietary habits [5].
  • The distribution of three DNA polymorphisms (XbaI, EcoRI, and I/D) of the apolipoprotein B (APOB) gene, and of the I/D polymorphism of the angiotensin I-converting enzyme (ACE) gene was investigated in 53 patients with vascular dementia, in 80 patients with late-onset sporadic Alzheimer's disease, and in 153 age-matched control subjects [6].

High impact information on APOB

  • Apo B-100 is made by the liver and is essential for the assembly of triglyceride-rich very low-density lipoproteins (VLDL) in the cisternae of the endoplasmic reticulum and for their secretion into the plasma [7].
  • A family study confirmed that the unequal expression phenotype was inherited in an autosomal dominant manner and was linked to the apob gene locus [8].
  • Products of the apob gene with high or low affinity for the MB-19 monoclonal antibody can be distinguished, and this antibody was used to identify heterozygotes with allele-specific differences in the amount of apoB in their plasma [8].
  • A 43-year-old woman with severe coronary artery disease and hyperapobetalipoproteinemia was heterozygous for an abnormal Msp I apolipoprotein B (APOB) gene fragment because of the absence of the MspI site around codon 4046 in exon 29 of the APOB gene [9].
  • Intestinal mRNA abundance of 2 candidate genes involved in lipid transport, mtp and apob, was unchanged, although serum levels of apolipoprotein A-IV were reduced [10].

Chemical compound and disease context of APOB


Biological context of APOB

  • In 70 unrelated FH patients, 44 had LDLR mutations detected by EBESA, including missense, RNA splicing, nonsense, or small deletion mutations, and 5 had the APOB R3500Q mutation [11].
  • APOB haplotypes explained 27% of the QTL effect observed for LDL-C on 2p24.1 and reduced the LOD-score by 0.82 [12].
  • In Family 59, a point mutation (1941G>T) in APOB exon 13 converts glutamic acid to stop codon (E578X), specifying apoB-13 [13].
  • APOB (PvuII) was strongly associated with apolipoprotein B levels (apoB) (P = 0.006) and the VNTR region of the APOB locus showed highly significant association between allele 7 and low triglyceride levels (P = 0.004) [14].
  • Of the seven APO and LPL loci tested, only one locus, APOB XbaI, departed significantly from Hardy-Weinberg equilibrium, with an unexpected excess of observed heterozygotes [15].

Anatomical context of APOB

  • Two forms of apoB are produced from the APOB gene by a unique posttranscriptional editing process: apoB-48, which is required for chylomicron production in the small intestine, and apoB-100, required for VLDL production in the liver [16].
  • We now report the mapping of the human apoB gene (APOB) to the p23-p24 region of chromosome 2 by examination of human-mouse somatic cell hybrids and by in situ hybridization to human chromosomes [17].
  • Transgenic mice that express human apolipoprotein (apo)B have been developed by microinjecting fertilized mouse oocytes with an 80 kb genomic DNA fragment that encompasses the entire human APOB gene [18].
  • This is the first example showing differential transcriptional regulation of the apob gene by cytokines and dissimilar regulation of one gene in two different cell lines by TGF-beta [19].
  • Hence, TGF-beta activates SMADs that bind to the 485-bp intestinal enhancer element in the apob gene and increase its transcription and secretion in Caco-2 cells [19].

Associations of APOB with chemical compounds

  • In Family 56, a 5 bp deletion in APOB exon 7 (870_874del5) causes a frame shift, converting tyrosine to a stop codon (Y220X) and producing an apoB-5 truncation [13].
  • In this study we investigated the relationship between plasma LDL-C concentrations and three genes with pivotal roles in LDL metabolism: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and cholesterol 7alpha-hydroxylase (CYP7) [20].
  • ACE (Ins/Del) and APOB (Ins/Del, XbaI, and EcoRI) and APOE (HhaI) polymorphisms were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses on agarose, and polyacrylamide gel electrophoresis [21].
  • These data indicate that the ins/del and XbaI polymorphisms in the APOB gene affect interindividual variation in serum lipoprotein and lipid levels in African populations [22].
  • Apo-B-100-containing lipoproteins present in the microsomal lumen were analyzed by ultracentrifugation in a sucrose gradient [23].

Physical interactions of APOB


Other interactions of APOB

  • Other loci, including APOA4, APOA1 and APOB have also been found to account for some of the variability in the fasting and fed states [25].
  • After fine mapping, three maximum LOD scores mapped within 1 cM of major candidate genes, namely APOB (LOD=2.1), LDLR (LOD=1.9) and APOE (LOD=1.7) [12].
  • We studied 29 individuals from eight families from this population for abnormal hemoglobins, G6PD deficiency, DNA haplotypes, and apolipoprotein B (APOB, gene) polymorphism [26].
  • Like its homolog APOBEC1, which requires at least one additional factor to efficiently edit APOB RNA, other proteins are likely to be required for the proper targeting of AID to the immunoglobulin loci [27].
  • Analysis of 150 nuclear families indicated statistically significant linkage between plasma LDL-C concentrations and CYP7, but not LDLR or APOB [20].

Analytical, diagnostic and therapeutic context of APOB


  1. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Cohen, J., Pertsemlidis, A., Kotowski, I.K., Graham, R., Garcia, C.K., Hobbs, H.H. Nat. Genet. (2005) [Pubmed]
  2. Relation of parental history of early myocardial infarction to the level of apoprotein B in men. Cambien, F., Warnet, J.M., Jacqueson, A., Ducimetiere, P., Richard, J.L., Claude, J.R. Circulation (1987) [Pubmed]
  3. Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. Tanoli, T., Yue, P., Yablonskiy, D., Schonfeld, G. J. Lipid Res. (2004) [Pubmed]
  4. Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis. Boekholdt, S.M., Peters, R.J., Fountoulaki, K., Kastelein, J.J., Sijbrands, E.J. Hum. Genet. (2003) [Pubmed]
  5. Apolipoprotein B, apolipoprotein E, and angiotensin-converting enzyme polymorphisms in 2 Italian populations at different risk for coronary artery disease and comparison of allele frequencies among European populations. Corbo, R.M., Scacchi, R., Mureddu, L., Mulas, G., Castrechini, S., Rivasi, A.P. Hum. Biol. (1999) [Pubmed]
  6. DNA polymorphisms of apolipoprotein B and angiotensin I-converting enzyme genes and relationships with lipid levels in Italian patients with vascular dementia or Alzheimer's disease. Scacchi, R., De Bernardini, L., Mantuano, E., Vilardo, T., Donini, L.M., Ruggeri, M., Gemma, A.T., Pascone, R., Corbo, R.M. Dementia and geriatric cognitive disorders. (1998) [Pubmed]
  7. Complete protein sequence and identification of structural domains of human apolipoprotein B. Knott, T.J., Pease, R.J., Powell, L.M., Wallis, S.C., Rall, S.C., Innerarity, T.L., Blackhart, B., Taylor, W.H., Marcel, Y., Milne, R. Nature (1986) [Pubmed]
  8. Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma. Gavish, D., Brinton, E.A., Breslow, J.L. Science (1989) [Pubmed]
  9. Apolipoprotein B-100 Hopkins (arginine4019----tryptophan). A new apolipoprotein B-100 variant in a family with premature atherosclerosis and hyperapobetalipoproteinemia. Ladias, J.A., Kwiterovich, P.O., Smith, H.H., Miller, M., Bachorik, P.S., Forte, T., Lusis, A.J., Antonarakis, S.E. JAMA (1989) [Pubmed]
  10. Disruption of hedgehog signaling reveals a novel role in intestinal morphogenesis and intestinal-specific lipid metabolism in mice. Wang, L.C., Nassir, F., Liu, Z.Y., Ling, L., Kuo, F., Crowell, T., Olson, D., Davidson, N.O., Burkly, L.C. Gastroenterology (2002) [Pubmed]
  11. Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. Wang, J., Ban, M.R., Hegele, R.A. J. Lipid Res. (2005) [Pubmed]
  12. Meta-analysis of four new genome scans for lipid parameters and analysis of positional candidates in positive linkage regions. Heijmans, B.T., Beekman, M., Putter, H., Lakenberg, N., van der Wijk, H.J., Whitfield, J.B., Posthuma, D., Pedersen, N.L., Martin, N.G., Boomsma, D.I., Slagboom, P.E. Eur. J. Hum. Genet. (2005) [Pubmed]
  13. Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL. Yue, P., Isley, W.L., Harris, W.S., Rosipal, S., Akin, C.D., Schonfeld, G. Atherosclerosis (2005) [Pubmed]
  14. Genetic contributions to quantitative lipoprotein traits associated with coronary artery disease: analysis of a large pedigree from the Bogalusa Heart Study. Heiba, I.M., DeMeester, C.A., Xia, Y.R., Diep, A., George, V.T., Amos, C.I., Srinivasan, S.R., Berenson, G.S., Elston, R.C., Lusis, A.J. Am. J. Med. Genet. (1993) [Pubmed]
  15. Apolipoproteins (apoproteins) and LPL variation in Mennonite populations of Kansas and Nebraska. Demarchi, D.A., Mosher, M.J., Crawford, M.H. Am. J. Hum. Biol. (2005) [Pubmed]
  16. Lipid disorders and mutations in the APOB gene. Whitfield, A.J., Barrett, P.H., van Bockxmeer, F.M., Burnett, J.R. Clin. Chem. (2004) [Pubmed]
  17. Human apolipoprotein B: chromosomal mapping and DNA polymorphisms of hepatic and intestinal species. Mehrabian, M., Sparkes, R.S., Mohandas, T., Klisak, I.J., Schumaker, V.N., Heinzmann, C., Zollman, S., Ma, Y.H., Lusis, A.J. Somat. Cell Mol. Genet. (1986) [Pubmed]
  18. Transgenic mice expressing human apoB100 and apoB48. Young, S.G., Farese, R.V., Pierotti, V.R., Taylor, S., Grass, D.S., Linton, M.F. Curr. Opin. Lipidol. (1994) [Pubmed]
  19. Differential, tissue-specific, transcriptional regulation of apolipoprotein B secretion by transforming growth factor beta. Singh, K., Batuman, O.A., Akman, H.O., Kedees, M.H., Vakil, V., Hussain, M.M. J. Biol. Chem. (2002) [Pubmed]
  20. Linkage between cholesterol 7alpha-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations. Wang, J., Freeman, D.J., Grundy, S.M., Levine, D.M., Guerra, R., Cohen, J.C. J. Clin. Invest. (1998) [Pubmed]
  21. Five polymorphisms in gene candidates for cardiovascular disease in Afro-Brazilian individuals. Sakuma, T., Hirata, R.D., Hirata, M.H. J. Clin. Lab. Anal. (2004) [Pubmed]
  22. Relationship of two apolipoprotein B polymorphisms with serum lipoprotein and lipid levels in African blacks. Anderson, J.L., Bunker, C.H., Aston, C.E., Kamboh, M.I. Hum. Biol. (1997) [Pubmed]
  23. Studies on the assembly of apo B-100-containing lipoproteins in HepG2 cells. Boström, K., Borén, J., Wettesten, M., Sjöberg, A., Bondjers, G., Wiklund, O., Carlsson, P., Olofsson, S.O. J. Biol. Chem. (1988) [Pubmed]
  24. Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor. Benn, M., Nordestgaard, B.G., Jensen, J.S., Nilausen, K., Meinertz, H., Tybjaerg-Hansen, A. J. Biol. Chem. (2005) [Pubmed]
  25. Genes, variation of cholesterol and fat intake and serum lipids. Ordovas, J.M., Schaefer, E.J. Curr. Opin. Lipidol. (1999) [Pubmed]
  26. Red cell genetic abnormalities, beta-globin gene haplotypes, and APOB polymorphism in the Great Andamanese, a primitive Negrito tribe of Andaman and Nicobar Islands, India. Murhekar, K.M., Murhekar, M.V., Mukherjee, M.B., Gorakshakar, A.C., Surve, R., Wadia, M., Phanasgaonkar, S., Shridevi, S., Colah, R.B., Mohanty, D. Hum. Biol. (2001) [Pubmed]
  27. MDM2 can interact with the C-terminus of AID but it is inessential for antibody diversification in DT40 B cells. MacDuff, D.A., Neuberger, M.S., Harris, R.S. Mol. Immunol. (2006) [Pubmed]
  28. Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia. Tejedor, D., Castillo, S., Mozas, P., Jiménez, E., López, M., Tejedor, M.T., Artieda, M., Alonso, R., Mata, P., Simón, L., Martínez, A., Pocoví, M. Clin. Chem. (2005) [Pubmed]
  29. Analysis of human specificity in AFLP systems APOB, PAH, and D1S80. Latorra, D., Schanfield, M.S. Forensic Sci. Int. (1996) [Pubmed]
  30. Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease. Jiang, Z.Y., Han, T.Q., Suo, G.J., Feng, D.X., Chen, S., Cai, X.X., Jiang, Z.H., Shang, J., Zhang, Y., Jiang, Y., Zhang, S.D. World J. Gastroenterol. (2004) [Pubmed]
  31. Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility. Peterlin, B., Zorn, B., Volk, M., Kunej, T. Mol. Hum. Reprod. (2006) [Pubmed]
  32. Apolipoprotein B gene 3'VNTR polymorphism: association with plasma lipids and coronary heart disease in Han Chinese. Yan, S.K., Song, Y.H., Zhu, W.L., Yan, X.W., Xue, H., Du, H., Chen, B.S. Clin. Chem. Lab. Med. (2006) [Pubmed]
WikiGenes - Universities