LMX1B explained
LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.[1] [2]
Function
LMX1B is a LIM homeobox transcription factor which plays a central role in dorso-ventral patterning of the vertebrate limb.[3]
Clinical significance
Loss-of-function mutations in the LMX1B gene are associated with Nail-patella syndrome.[4]
Further reading
- Millá E, Hernan I, Gamundi MJ, etal . Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma. . Mol. Vis. . 13 . 639–48 . 2007 . 17515884 . 2669506 .
- Oshimo T, Fukai K, Higashi N, etal . A novel LMX1B nonsense mutation in a family with nail-patella syndrome. . J. Dermatol. Sci. . 52 . 1 . 57–60 . 2008 . 18562181 . 10.1016/j.jdermsci.2008.04.014 .
- Ham JH, Shin SJ, Joo KR, etal . A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. . The Korean Journal of Internal Medicine . 24 . 3 . 274–8 . 2009 . 19721866 . 10.3904/kjim.2009.24.3.274 . 2732789 .
- Prichard ZM, Jorm AF, Mackinnon A, Easteal S . Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits. . Psychiatr. Genet. . 17 . 5 . 299–303 . 2007 . 17728669 . 10.1097/YPG.0b013e32816ebc9e . 10358616 . 1885/34438 . free .
- Dunston JA, Lin S, Park JW, etal . Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. . Ann. Hum. Genet. . 69 . Pt 1 . 1–8 . 2005 . 15638822 . 10.1046/j.1529-8817.2004.00133.x . 9205742 . free .
- Bongers EM, de Wijs IJ, Marcelis C, etal . Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. . Eur. J. Hum. Genet. . 16 . 10 . 1240–4 . 2008 . 18414507 . 10.1038/ejhg.2008.83 . free .
- Morello R, Lee B . Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. . Pediatr. Res. . 51 . 5 . 551–8 . 2002 . 11978876 . 10.1203/00006450-200205000-00002 . free .
- Zarzecki M, Nieszporek T, Chudek J, Wiecek A . [The nail-patella syndrome: rare genetically determined cause of proteinuria] . Pol. Arch. Med. Wewn. . 116 . 6 . 1192–9 . 2006 . 18634531 .
- Rascle A, Neumann T, Raschta AS, etal . The LIM-homeodomain transcription factor LMX1B regulates expression of NF-kappa B target genes. . Exp. Cell Res. . 315 . 1 . 76–96 . 2009 . 18996370 . 10.1016/j.yexcr.2008.10.012 .
- Lin Y, Zhao J, Chen S, etal . A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. . Bone . 43 . 3 . 591–5 . 2008 . 18595794 . 10.1016/j.bone.2008.04.025 .
- Heidet L, Bongers EM, Sich M, etal . In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. . Am. J. Pathol. . 163 . 1 . 145–55 . 2003 . 12819019 . 10.1016/S0002-9440(10)63638-3. 1868155 .
- Bergman O, Híkansson A, Westberg L, etal . Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease? . J Neural Transm . 116 . 3 . 333–8 . 2009 . 19189040 . 10.1007/s00702-009-0187-z . 12174130 .
- Park S, Jamshidi Y, Vaideanu D, etal . Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. . Invest. Ophthalmol. Vis. Sci. . 50 . 4 . 1522–30 . 2009 . 18952915 . 10.1167/iovs.08-2483 .
- Harendza S, Stahl RA, Schneider A . The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. . Cell. Mol. Biol. Lett. . 14 . 4 . 679–91 . 2009 . 19562271 . 6275688 . 10.2478/s11658-009-0026-0 .
- Mishima Y, Lindgren AG, Chizhikov VV, etal . Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth. . J. Neurosci. . 29 . 36 . 11377–84 . 2009 . 19741143 . 10.1523/JNEUROSCI.0969-09.2009 . 2765661 .
- Bongers EM, Huysmans FT, Levtchenko E, etal . Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. . Eur. J. Hum. Genet. . 13 . 8 . 935–46 . 2005 . 15928687 . 10.1038/sj.ejhg.5201446 . free .
- Fuchs J, Mueller JC, Lichtner P, etal . The transcription factor PITX3 is associated with sporadic Parkinson's disease. . Neurobiol. Aging . 30 . 5 . 731–8 . 2009 . 17905480 . 10.1016/j.neurobiolaging.2007.08.014 . 26905615 .
- Finsterer J, Stöllberger C . LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient. . Eur. Neurol. . 49 . 3 . 186–7 . 2003 . 12646768 . 10.1159/000069078 . 37995437 .
- Marini M, Bongers EM, Cusano R, etal . Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. . Int. J. Mol. Med. . 12 . 1 . 79–82 . 2003 . 12792813 . 10.3892/ijmm.12.1.79.
- Balci S, Engiz O . Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis. . Genet. Couns. . 18 . 2 . 259–62 . 2007 . 17710881 .
External links
Notes and References
- Web site: Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta.
- Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA . Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9 . Genomics . 46 . 3 . 520–4 . December 1997 . 9441763 . 10.1006/geno.1997.5075 .
- Schweizer H, Johnson RL, Brand-Saberi B . Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression . Anat. Embryol. . 208 . 1 . 7–18 . April 2004 . 15007643 . 10.1007/s00429-003-0373-y . 24982408 .
- Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B . Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome . Nat. Genet. . 19 . 1 . 47–50 . May 1998 . 9590287 . 10.1038/ng0598-47 . 2329971 .