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Chemical Compound Review

leucine     (2R)-2-amino-4-methyl- pentanoic acid

Synonyms: D-Leucin, D-Leuzin, D-LEUCINE, D-Leu, D-Homo-valine, ...
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Disease relevance of leucine

  • Diabetes mellitus associated with the A-->G mutation at position 3243 of mitochondrial leucine transfer RNA represents a subtype of diabetes found in both patients with IDDM and patients with NIDDM in Japan [1].
  • The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein [2].
  • Reduced maximal levels of derepression of the isoleucine-valine and leucine enzymes in hisT mutants of Salmonella typhimurium [3].
  • Human T-cell leukaemia virus type I (HTLV-I) Tax protein increases the DNA binding of many cellular transcription factors that contain a basic region-leucine zipper (bZIP) DNA-binding domain. bZIP domains comprise a leucine-rich dimerization motif and a basic region that mediates DNA contact [4].
  • Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease [5].

Psychiatry related information on leucine

  • Interestingly, the Leu102 allele was also carried by some unaffected relatives of 3 patients with CJD with congophilic kuru plaques but with no apparent familial occurrence of a similar neurological disorder [6].
  • Mutational analysis of the tau coding region identified a C-to-T change in exon 10 that resulted in the conversion of proline to a leucine (P301L) that segregated with frontotemporal dementia in this family [7].
  • BACKGROUND: Three affected individuals are described from a small English kindred with early-onset autosomal dominant familial Alzheimer disease (FAD) caused by a leucine-to-valine change at codon 153 (L153V) of the presenilin 1 (PSEN1) gene [8].
  • Significantly low values for threonine, alanine, isoleucine, leucine, lysine and histidine were found in the Huntington's chorea patients [9].
  • Recessive mutations within human MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), whereas a missense mutation resulting in a methionine substitution within a transmembrane leucine string of MLC has been implicated in catatonic schizophrenia in a large pedigree [10].

High impact information on leucine

  • TLR4 belongs to a family of innate immunity receptors that possess a large extracellular domain of leucine-rich repeats, a single trans-membrane segment, and a smaller cytoplasmic signaling region that engages the adaptor protein MyD88 [11].
  • We find that the EGFR kinase domain can be activated by increasing its local concentration or by mutating a leucine (L834R) in the activation loop, the phosphorylation of which is not required for activation [12].
  • The surviving jawless vertebrates, lampreys and hagfish, instead solved the receptor diversification problem by the recombinatorial assembly of leucine-rich-repeat genetic modules to encode variable lymphocyte receptors [13].
  • We report that RPM-1 negatively regulates a p38 MAP kinase pathway composed of the dual leucine zipper-bearing MAPKKK DLK-1, the MAPKK MKK-4, and the p38 MAP kinase PMK-3 [14].
  • We constructed a complete, 4.2-Mb physical map across the genetically implicated disease-gene region, identified 28 putative genes (Fig. 1) and resequenced all or part of 21 genes before identifying presumptive mutations in one copy of the leucine-rich, glioma-inactivated 1 gene (LGI1) in each of five families with ADPEAF [15].

Chemical compound and disease context of leucine

  • We show here that PrP codon 102 is linked to the putative gene for the syndrome in two pedigrees, providing the best evidence to date that this familial condition is inherited despite also being infectious, and that substitution of leucine for proline at PrP codon 102 may lead to the development of Gerstmann-Sträussler syndrome [16].
  • The ratio of plasma alpha amino-n-butyric acid to leucine was raised in patients with both alcohol-related and nonalchol-related liver disease [17].
  • In summary, in IDDM: (a) Peripheral hyperinsulinemia is required to normalize both fasting leucine metabolism and blood glucose concentrations [18].
  • Local hyperinsulinemia increased (P < 0.05) the rates of inward transport of leucine, lysine, and alanine, from 164 +/- 22 to 200 +/- 25, from 126 +/- 11 to 221 +/- 30, and from 403 +/- 64 to 595 +/- 106 nmol/min per 100 ml leg, respectively [19].
  • These studies define the molecular basis of the Bernard-Soulier syndrome within this family and demonstrate that structural integrity of a leucine-rich repeat is necessary for normal function of the glycoprotein Ib-IX-V receptor complex and, possibly, for normal platelet morphology [20].

Biological context of leucine


Anatomical context of leucine

  • In contrast, the uptake of L-leucine by islet cells was not affected by any of the IgG fractions [25].
  • Ribosomes containing wild-type proteins and U1469 mutant 16S rRNA misincorporate leucine in vitro at elevated levels, comparable to that of some typical S4 ram ribosomes [26].
  • We screened 11,000 enhancer trap lines, isolated several expressing beta-galactosidase in small subsets of muscle fibers prior to innervation, and identified two of these as inserts in connectin and Toll, members of the leucine-rich repeat gene family [27].
  • A human CSF-1 receptor containing an "activating" mutation in its extracellular domain (serine for leucine 301) induced morphologic transformation, anchorage-independent growth, and tumorigenicity in mouse NIH 3T3 cells [28].
  • A critical component of the innate immune system, TLRs utilize leucine-rich-repeat motifs for ligand binding and a shared cytoplasmic domain to recruit the adaptors MyD88, TRIF, TIRAP, and/or TRAM for downstream signaling [29].

Associations of leucine with other chemical compounds

  • However, protein-polysaccharide fractions with nearly 40% of the incorporated glucosamine and only 5% mannose and 1% leucine were insensitive to inhibition by tunicamycin [30].
  • Sequencing revealed that one mutant allele contains a T----C transition changing a leucine to a proline; another NF1 allele harbors a C----T transition changing an arginine to a stop codon [31].
  • All mutations occur in the same base pair of exon 6 and result in the substitution of an uncharged amino acid (leucine or glutamine) for Arg271 in the mature protein [32].
  • The pattern of cleavage products and sequence analysis of one fragment indicated that the first scission occurred between leucine 6 and lysine 7 [33].
  • The addition of low concentrations of cycloheximide (33-100 ng/ml) at any time after the end of the lag phase brings about a rapid reduction (within 1-2 hr) of the rate constant for entry into S phase by an amount that is proportional to the inhibition of leucine incorporation [34].

Gene context of leucine

  • The A. thaliana disease resistance gene RPS2 encodes a protein containing a nucleotide-binding site and leucine-rich repeats [35].
  • The yeast SUP53 gene encodes a leucine-inserting amber suppressor tRNA [36].
  • We cloned the SNI1 gene and found that it encodes a leucine-rich nuclear protein [37].
  • Mutations in Drosophila scribble (scrib), which encodes a multi-PDZ (PSD-95, Discs-large and ZO-1) and leucine-rich-repeat protein, cause aberrant cell shapes and loss of the monolayer organization of embryonic epithelia [38].
  • This giant protein comprises an amino-terminal 700-residue leucine-rich region, four RanBP1-homologous (refs 9, 10) domains, eight zinc-finger motifs similar to those of NUP153 (refs 11, 12), and a carboxy terminus with high homology to cyclophilin [39].

Analytical, diagnostic and therapeutic context of leucine


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  2. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Pusch, C.M., Zeitz, C., Brandau, O., Pesch, K., Achatz, H., Feil, S., Scharfe, C., Maurer, J., Jacobi, F.K., Pinckers, A., Andreasson, S., Hardcastle, A., Wissinger, B., Berger, W., Meindl, A. Nat. Genet. (2000) [Pubmed]
  3. Reduced maximal levels of derepression of the isoleucine-valine and leucine enzymes in hisT mutants of Salmonella typhimurium. Bresalier, R.S., Rizzino, A.A., Freundlich, M. Nature (1975) [Pubmed]
  4. Recognition of bZIP proteins by the human T-cell leukaemia virus transactivator Tax. Perini, G., Wagner, S., Green, M.R. Nature (1995) [Pubmed]
  5. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Hugot, J.P., Chamaillard, M., Zouali, H., Lesage, S., Cézard, J.P., Belaiche, J., Almer, S., Tysk, C., O'Morain, C.A., Gassull, M., Binder, V., Finkel, Y., Cortot, A., Modigliani, R., Laurent-Puig, P., Gower-Rousseau, C., Macry, J., Colombel, J.F., Sahbatou, M., Thomas, G. Nature (2001) [Pubmed]
  6. Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Sträussler syndrome. Doh-ura, K., Tateishi, J., Kitamoto, T., Sasaki, H., Sakaki, Y. Ann. Neurol. (1990) [Pubmed]
  7. From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Nasreddine, Z.S., Loginov, M., Clark, L.N., Lamarche, J., Miller, B.L., Lamontagne, A., Zhukareva, V., Lee, V.M., Wilhelmsen, K.C., Geschwind, D.H. Ann. Neurol. (1999) [Pubmed]
  8. Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation. Janssen, J.C., Lantos, P.L., Fox, N.C., Harvey, R.J., Beck, J., Dickinson, A., Campbell, T.A., Collinge, J., Hanger, D.P., Cipolotti, L., Stevens, J.M., Rossor, M.N. Arch. Neurol. (2001) [Pubmed]
  9. Plasma amino acid levels in Huntington's chorea. Watt, J.A., Cunningham, W.L. The British journal of psychiatry : the journal of mental science. (1978) [Pubmed]
  10. The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain. Schmitt, A., Gofferje, V., Weber, M., Meyer, J., Mössner, R., Lesch, K.P. Glia (2003) [Pubmed]
  11. Lipopolysaccharide endotoxins. Raetz, C.R., Whitfield, C. Annu. Rev. Biochem. (2002) [Pubmed]
  12. An allosteric mechanism for activation of the kinase domain of epidermal growth factor receptor. Zhang, X., Gureasko, J., Shen, K., Cole, P.A., Kuriyan, J. Cell (2006) [Pubmed]
  13. The evolution of adaptive immune systems. Cooper, M.D., Alder, M.N. Cell (2006) [Pubmed]
  14. Regulation of a DLK-1 and p38 MAP kinase pathway by the ubiquitin ligase RPM-1 is required for presynaptic development. Nakata, K., Abrams, B., Grill, B., Goncharov, A., Huang, X., Chisholm, A.D., Jin, Y. Cell (2005) [Pubmed]
  15. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Kalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Martinelli Boneschi, F., Choi, C., Morozov, P., Das, K., Teplitskaya, E., Yu, A., Cayanis, E., Penchaszadeh, G., Kottmann, A.H., Pedley, T.A., Hauser, W.A., Ottman, R., Gilliam, T.C. Nat. Genet. (2002) [Pubmed]
  16. Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Hsiao, K., Baker, H.F., Crow, T.J., Poulter, M., Owen, F., Terwilliger, J.D., Westaway, D., Ott, J., Prusiner, S.B. Nature (1989) [Pubmed]
  17. Ratio of plasma alpha amino-n-butyric acid to leucine as an empirical marker of alcoholism: diagnostic value. Morgan, M.Y., Milsom, J.P., Sherlock, S. Science (1977) [Pubmed]
  18. Defective suppression by insulin of leucine-carbon appearance and oxidation in type 1, insulin-dependent diabetes mellitus. Evidence for insulin resistance involving glucose and amino acid metabolism. Tessari, P., Nosadini, R., Trevisan, R., De Kreutzenberg, S.V., Inchiostro, S., Duner, E., Biolo, G., Marescotti, M.C., Tiengo, A., Crepaldi, G. J. Clin. Invest. (1986) [Pubmed]
  19. Physiologic hyperinsulinemia stimulates protein synthesis and enhances transport of selected amino acids in human skeletal muscle. Biolo, G., Declan Fleming, R.Y., Wolfe, R.R. J. Clin. Invest. (1995) [Pubmed]
  20. Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. Ware, J., Russell, S.R., Marchese, P., Murata, M., Mazzucato, M., De Marco, L., Ruggeri, Z.M. J. Clin. Invest. (1993) [Pubmed]
  21. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Benson, M.D., Liepnieks, J., Uemichi, T., Wheeler, G., Correa, R. Nat. Genet. (1993) [Pubmed]
  22. A major developmental transition in early Xenopus embryos: II. Control of the onset of transcription. Newport, J., Kirschner, M. Cell (1982) [Pubmed]
  23. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Derry, J.M., Ochs, H.D., Francke, U. Cell (1994) [Pubmed]
  24. Nucleotide sequence of yeast LEU2 shows 5'-noncoding region has sequences cognate to leucine. Andreadis, A., Hsu, Y.P., Kohlhaw, G.B., Schimmel, P. Cell (1982) [Pubmed]
  25. Inhibition of glucose transport into rat islet cells by immunoglobulins from patients with new-onset insulin-dependent diabetes mellitus. Johnson, J.H., Crider, B.P., McCorkle, K., Alford, M., Unger, R.H. N. Engl. J. Med. (1990) [Pubmed]
  26. A single base substitution in 16S ribosomal RNA suppresses streptomycin dependence and increases the frequency of translational errors. Allen, P.N., Noller, H.F. Cell (1991) [Pubmed]
  27. Connectin: a homophilic cell adhesion molecule expressed on a subset of muscles and the motoneurons that innervate them in Drosophila. Nose, A., Mahajan, V.B., Goodman, C.S. Cell (1992) [Pubmed]
  28. A point mutation in the extracellular domain of the human CSF-1 receptor (c-fms proto-oncogene product) activates its transforming potential. Roussel, M.F., Downing, J.R., Rettenmier, C.W., Sherr, C.J. Cell (1988) [Pubmed]
  29. Recognition and signaling by toll-like receptors. West, A.P., Koblansky, A.A., Ghosh, S. Annu. Rev. Cell Dev. Biol. (2006) [Pubmed]
  30. Glycoprotein synthesis and inhibition of glycosylation by tunicamycin in preimplantation mouse embryos: compaction and trophoblast adhesion. Surani, M.A. Cell (1979) [Pubmed]
  31. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cawthon, R.M., Weiss, R., Xu, G.F., Viskochil, D., Culver, M., Stevens, J., Robertson, M., Dunn, D., Gesteland, R., O'Connell, P. Cell (1990) [Pubmed]
  32. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Shiang, R., Ryan, S.G., Zhu, Y.Z., Hahn, A.F., O'Connell, P., Wasmuth, J.J. Nat. Genet. (1993) [Pubmed]
  33. Recovery of S. cerevisiae a cells from G1 arrest by alpha factor pheromone requires endopeptidase action. Ciejek, E., Thorner, J. Cell (1979) [Pubmed]
  34. Continuous protein synthesis is required to maintain the probability of entry into S phase. Brooks, R.F. Cell (1977) [Pubmed]
  35. The A. thaliana disease resistance gene RPS2 encodes a protein containing a nucleotide-binding site and leucine-rich repeats. Mindrinos, M., Katagiri, F., Yu, G.L., Ausubel, F.M. Cell (1994) [Pubmed]
  36. tRNA gene transcription in yeast: effects of specified base substitutions in the intragenic promoter. Newman, A.J., Ogden, R.C., Abelson, J. Cell (1983) [Pubmed]
  37. Identification and cloning of a negative regulator of systemic acquired resistance, SNI1, through a screen for suppressors of npr1-1. Li, X., Zhang, Y., Clarke, J.D., Li, Y., Dong, X. Cell (1999) [Pubmed]
  38. Localization of apical epithelial determinants by the basolateral PDZ protein Scribble. Bilder, D., Perrimon, N. Nature (2000) [Pubmed]
  39. A giant nucleopore protein that binds Ran/TC4. Yokoyama, N., Hayashi, N., Seki, T., Panté, N., Ohba, T., Nishii, K., Kuma, K., Hayashida, T., Miyata, T., Aebi, U. Nature (1995) [Pubmed]
  40. Organization and structure of an E. coli tRNA operon containing seven tRNA genes. Nakajima, N., Ozeki, H., Shimura, Y. Cell (1981) [Pubmed]
  41. Characterization of ribosomal frameshifting in HIV-1 gag-pol expression. Jacks, T., Power, M.D., Masiarz, F.R., Luciw, P.A., Barr, P.J., Varmus, H.E. Nature (1988) [Pubmed]
  42. Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain. Ferré-D'Amaré, A.R., Prendergast, G.C., Ziff, E.B., Burley, S.K. Nature (1993) [Pubmed]
  43. Placental luteinizing hormone-releasing factor and its synthesis. Khodr, G.S., Siler-Khodr, T.M. Science (1980) [Pubmed]
  44. Effects of low dose oral contraceptives on very low density and low density lipoprotein metabolism. Walsh, B.W., Sacks, F.M. J. Clin. Invest. (1993) [Pubmed]
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