Thu . 19 Apr 2019

Monocarboxylate transporter 8

monocarboxylate transporter 8 ply trailer, monocarboxylate transporter 8 full
NM_006517

NM_009197

RefSeq protein

NP_006508

NP_033223

Location UCSC Chr X: 7442 – 7453 Mb Chr X: 1037 – 10382 Mb PubMed search Wikidata
Slc16a2 knockout mouse phenotype
Characteristic Phenotype
Homozygote viability Normal
Fertility Normal
Body weight Normal
Anxiety Normal
Neurological assessment Normal
Grip strength Normal
Hot plate Normal
Dysmorphology Normal
Indirect calorimetry Normal
Glucose tolerance test Abnormal
Auditory brainstem response Normal
DEXA Normal
Radiography Normal
Body temperature Normal
Eye morphology Normal
Clinical chemistry Abnormal
Haematology Normal
Micronucleus test Normal
Heart weight Normal
Salmonella infection Abnormal
Citrobacter infection Normal
All tests and analysis from

Mice

A conditional knockout mouse line, called Slc16a2tm1aKOMPWtsi was generated as part of the International Knockout Mouse Consortium program—a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion Twenty one tests were carried out on mutant mice and three significant abnormalities were observed Female homozygote mutants had decreased circulating glucose levels Male hemizygous mutants had an increased susceptibility to bacterial infection Both sexes had various abnormal plasma chemistry parameters

Zebrafish

A knockout zebrafish line was generated in 2014 using the zinc-finger nuclease ZFN-mediated targeted gene editing system Similar to human patients, the zebrafish larvae exhibited neurological and behavioral deficiencies They demonstrated reduced locomotor activity, altered myelin-related genes and neuron-specific deficiencies in circuit formation

Xenopus

Expression of mct8 has been characterised in Xenopus laevis and Xenopus tropicalis

See also

  • Solute carrier family

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147100 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033965 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:" 
  4. ^ "Mouse PubMed Reference:" 
  5. ^ Lafrenière RG, Carrel L, Willard HF Jul 1994 "A novel transmembrane transporter encoded by the XPCT gene in Xq132" Human Molecular Genetics 3 7: 1133–9 doi:101093/hmg/371133 PMID 7981683 
  6. ^ a b c Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ Oct 2003 "Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter" The Journal of Biological Chemistry 278 41: 40128–35 doi:101074/jbcM300909200 PMID 12871948 
  7. ^ Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE Jul 2005 "Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 MCT8 gene" American Journal of Human Genetics 77 1: 41–53 doi:101086/431313 PMC 1226193  PMID 15889350 
  8. ^ "Entrez Gene: SLC16A2 solute carrier family 16, member 2 monocarboxylic acid transporter 8" 
  9. ^ Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S Jan 2004 "A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene" American Journal of Human Genetics 74 1: 168–75 doi:101086/380999 PMC 1181904  PMID 14661163 
  10. ^ Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N Sep 2011 "Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing" Journal of Medical Genetics 48 9: 606–9 doi:101136/jmg2010083535 PMID 21415082 
  11. ^ Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R Jan 2009 "Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects" Annals of Neurology 65 1: 114–8 doi:101002/ana21579 PMID 19194886 
  12. ^ "Glucose tolerance test data for Slc16a2" Wellcome Trust Sanger Institute 
  13. ^ "Clinical chemistry data for Slc16a2" Wellcome Trust Sanger Institute 
  14. ^ "Salmonella infection data for Slc16a2" Wellcome Trust Sanger Institute 
  15. ^ "Citrobacter infection data for Slc16a2" Wellcome Trust Sanger Institute 
  16. ^ a b c d Gerdin AK 2010 "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice" Acta Ophthalmologica 88: 925–7 doi:101111/j1755-376820104142x 
  17. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute
  18. ^ "International Knockout Mouse Consortium" 
  19. ^ "Mouse Genome Informatics" 
  20. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A Jun 2011 "A conditional knockout resource for the genome-wide study of mouse gene function" Nature 474 7351: 337–42 doi:101038/nature10163 PMC 3572410  PMID 21677750 
  21. ^ Dolgin E Jun 2011 "Mouse library set to be knockout" Nature 474 7351: 262–3 doi:101038/474262a PMID 21677718 
  22. ^ Collins FS, Rossant J, Wurst W Jan 2007 "A mouse for all reasons" Cell 128 1: 9–13 doi:101016/jcell200612018 PMID 17218247 
  23. ^ van der Weyden L, White JK, Adams DJ, Logan DW 2011 "The mouse genetics toolkit: revealing function and mechanism" Genome Biology 12 6: 224 doi:101186/gb-2011-12-6-224 PMC 3218837  PMID 21722353 
  24. ^ Zada D, Tovin A, Lerer-Goldshtein T, Vatine GD, Appelbaum L Sep 2014 "Altered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardation" PLoS Genetics 10 9: e1004615 doi:101371/journalpgen1004615 PMC 4177677  PMID 25255244 
  25. ^ Zada D, Tovin A, Lerer-Goldshtein T, Vatine GD, Appelbaum L Sep 2014 "Altered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardation" PLoS Genetics 10 9: e1004615 doi:101371/journalpgen1004615 PMC 4177677  PMID 25255244 
  26. ^ Mughal, Bilal B; Leemans, Michelle; Lima de Souza, Elaine C; le Mevel, Sébastien; Spirhanzlova, Petra; Visser, Theo J; Fini, Jean-Baptiste; Demeneix, Barbara A 2017-08-01 "Functional Characterization of Xenopus Thyroid Hormone Transporters mct8 and oatp1c1" Endocrinology 158 8: 2694–2705 doi:101210/en2017-00108 ISSN 1945-7170 PMID 28591769 
  27. ^ Connors, Kristin A; Korte, Joseph J; Anderson, Grant W; Degitz, Sigmund J 2010-08-01 "Characterization of thyroid hormone transporter expression during tissue-specific metamorphic events in Xenopus tropicalis" General and Comparative Endocrinology 168 1: 149–159 doi:101016/jygcen201004015 ISSN 1095-6840 PMID 20417208 

Further reading

  • Halestrap AP, Meredith D Feb 2004 "The SLC16 gene family-from monocarboxylate transporters MCTs to aromatic amino acid transporters and beyond" Pflügers Archiv 447 5: 619–28 doi:101007/s00424-003-1067-2 PMID 12739169 
  • Friesema EC, Jansen J, Heuer H, Trajkovic M, Bauer K, Visser TJ Sep 2006 "Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8" Nature Clinical Practice Endocrinology & Metabolism 2 9: 512–23 doi:101038/ncpendmet0262 PMID 16957765 
  • Grüters A 2007 "Thyroid hormone transporter defects" Endocrine Development 10: 118–26 doi:101159/0000106823 PMID 17684393 
  • Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA Apr 1996 "A "double adaptor" method for improved shotgun library construction" Analytical Biochemistry 236 1: 107–13 doi:101006/abio19960138 PMID 8619474 
  • Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA Apr 1997 "Large-scale concatenation cDNA sequencing" Genome Research 7 4: 353–8 doi:101101/gr74353 PMC 139146  PMID 9110174 
  • Price NT, Jackson VN, Halestrap AP Jan 1998 "Cloning and sequencing of four new mammalian monocarboxylate transporter MCT homologues confirms the existence of a transporter family with an ancient past" The Biochemical Journal 329 Pt 2 2: 321–8 PMC 1219047  PMID 9425115 
  • Debrand E, Heard E, Avner P Mar 1998 "Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene" Genomics 48 3: 296–303 doi:101006/geno19975173 PMID 9545634 
  • Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S Jan 2004 "A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene" American Journal of Human Genetics 74 1: 168–75 doi:101086/380999 PMC 1181904  PMID 14661163 
  • Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ 2004 "Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation" Lancet 364 9443: 1435–7 doi:101016/S0140-67360417226-7 PMID 15488219 
  • Heuer H, Maier MK, Iden S, Mittag J, Friesema EC, Visser TJ, Bauer K Apr 2005 "The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations" Endocrinology 146 4: 1701–6 doi:101210/en2004-1179 PMID 15661862 
  • Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S Jun 2005 "X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene" Journal of Neurology 252 6: 663–6 doi:101007/s00415-005-0713-3 PMID 15834651 
  • Friesema EC, Kuiper GG, Jansen J, Visser TJ, Kester MH Nov 2006 "Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism" Molecular Endocrinology 20 11: 2761–72 doi:101210/me2005-0256 PMID 16887882 
  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M Nov 2006 "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" Cell 127 3: 635–48 doi:101016/jcell200609026 PMID 17081983 
  • Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Grüters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ Jun 2007 "Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine" The Journal of Clinical Endocrinology and Metabolism 92 6: 2378–81 doi:101210/jc2006-2570 PMID 17356046 

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Monocarboxylate transporter 8


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