FHL1
Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.[5][6][7]
Structure
LIM proteins, named for 'LIN11, ISL1, and MEC3,' are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.[7]
Role in muscle disorders
FHL1 has been shown to be heavily expressed in skeletal and cardiac muscles.[8] In 2008 this was borne out by the discovery that defects in the FHL1 gene are responsible for a number of Muscular dystrophy-like muscle disorders, ranging from severe, childhood onset diseases through to adult-onset disorders similar to Limb girdle muscular dystrophy. At least 15 disease-causing mutations in this gene have been discovered.[9] At present different research groups are using different terminology for these disorders, which include:
- X-linked myopathy with postural muscle atrophy (XMPMA)
- An adult-onset muscle disorder known to affect families in Austria and the UK.[10]
- Reducing body myopathy (RBM)
- A rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. The effects of the disorder can be either severe, with onset of weakness at approximately five years, or adult onset, with weakness occurring in the late 20s, early 30s.[11]
- Scapuloperoneal myopathy (SPM)
- Another adult-onset muscle disorder, especially affecting the shoulder girdle and legs.[12]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000022267 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023092 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Morgan MJ, Madgwick AJ (Aug 1996). "Slim defines a novel family of LIM-proteins expressed in skeletal muscle". Biochemical and Biophysical Research Communications. 225 (2): 632–8. doi:10.1006/bbrc.1996.1222. PMID 8753811.
- ^ Lee SM, Tsui SK, Chan KK, Garcia-Barcelo M, Waye MM, Fung KP, Liew CC, Lee CY (Aug 1998). "Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)". Gene. 216 (1): 163–70. doi:10.1016/S0378-1119(98)00302-3. PMID 9714789.
- ^ a b "Entrez Gene: FHL1 four and a half LIM domains 1".
- ^ Lee SM, Tsui SK, Chan KK, Garcia-Barcelo M, Waye MM, Fung KP, Liew CC, Lee CY (Aug 1998). "Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)". Gene. 216 (1): 163–70. doi:10.1016/S0378-1119(98)00302-3. PMID 9714789.
- ^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.
- ^ Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S (Jan 2008). "An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1". American Journal of Human Genetics. 82 (1): 88–99. doi:10.1016/j.ajhg.2007.09.004. PMC 2253986. PMID 18179888.
- ^ Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG (Mar 2008). "Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy". The Journal of Clinical Investigation. 118 (3): 904–12. doi:10.1172/JCI34450. PMC 2242623. PMID 18274675.
- ^ Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M (Jan 2008). "X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1". American Journal of Human Genetics. 82 (1): 208–13. doi:10.1016/j.ajhg.2007.09.013. PMC 2253963. PMID 18179901.
Further reading
- Morgan MJ, Madgwick AJ, Charleston B, Pell JM, Loughna PT (Jul 1995). "The developmental regulation of a novel muscle LIM-protein". Biochemical and Biophysical Research Communications. 212 (3): 840–6. doi:10.1006/bbrc.1995.2045. PMID 7626119.
- Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Tani S, Taniwaki M, Taniguchi Y, Minoguchi S, Kuroda K, Han H, Aoki T, Miyatake S, Hashimoto N, Honjo T (1999). "Chromosomal mapping of two RBP-J-related genes: Kyo-T and RBP-L". Journal of Human Genetics. 44 (1): 73–5. doi:10.1007/s100380050112. PMID 9929984.
- Morgan MJ, Madgwick AJ (Feb 1999). "The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle". Biochemical and Biophysical Research Communications. 255 (2): 245–50. doi:10.1006/bbrc.1999.0179. PMID 10049693.
- Greene WK, Baker E, Rabbitts TH, Kees UR (May 1999). "Genomic structure, tissue expression and chromosomal location of the LIM-only gene, SLIM1". Gene. 232 (2): 203–7. doi:10.1016/S0378-1119(99)00125-0. PMID 10352231.
- Brown S, McGrath MJ, Ooms LM, Gurung R, Maimone MM, Mitchell CA (Sep 1999). "Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and in nuclear-cytoplasmic communication". The Journal of Biological Chemistry. 274 (38): 27083–91. doi:10.1074/jbc.274.38.27083. PMID 10480922.
- Lee SM, Li HY, Ng EK, Or SM, Chan KK, Kotaka M, Chim SS, Tsui SK, Waye MM, Fung KP, Lee CY (Sep 1999). "Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1". Gene. 237 (1): 253–63. doi:10.1016/S0378-1119(99)00251-6. PMID 10524257.
- Ng EK, Lee SM, Li HY, Ngai SM, Tsui SK, Waye MM, Lee CY, Fung KP (2001). "Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1)". Journal of Cellular Biochemistry. 82 (1): 1–10. doi:10.1002/jcb.1110. PMID 11400158. S2CID 25900444.
- Lange S, Auerbach D, McLoughlin P, Perriard E, Schäfer BW, Perriard JC, Ehler E (Dec 2002). "Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2". Journal of Cell Science. 115 (Pt 24): 4925–36. doi:10.1242/jcs.00181. PMID 12432079.
- Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
- McGrath MJ, Mitchell CA, Coghill ID, Robinson PA, Brown S (Dec 2003). "Skeletal muscle LIM protein 1 (SLIM1/FHL1) induces alpha 5 beta 1-integrin-dependent myocyte elongation". American Journal of Physiology. Cell Physiology. 285 (6): C1513–26. doi:10.1152/ajpcell.00207.2003. PMID 12917103.
- Qin H, Wang J, Liang Y, Taniguchi Y, Tanigaki K, Han H (2004). "RING1 inhibits transactivation of RBP-J by Notch through interaction with LIM protein KyoT2". Nucleic Acids Research. 32 (4): 1492–501. doi:10.1093/nar/gkh295. PMC 390284. PMID 14999091.
- Philippar U, Schratt G, Dieterich C, Müller JM, Galgóczy P, Engel FB, Keating MT, Gertler F, Schüle R, Vingron M, Nordheim A (Dec 2004). "The SRF target gene Fhl2 antagonizes RhoA/MAL-dependent activation of SRF". Molecular Cell. 16 (6): 867–80. doi:10.1016/j.molcel.2004.11.039. hdl:1721.1/83480. PMID 15610731.
- Qin H, Du D, Zhu Y, Li J, Feng L, Liang Y, Han H (Feb 2005). "The PcG protein HPC2 inhibits RBP-J-mediated transcription by interacting with LIM protein KyoT2". FEBS Letters. 579 (5): 1220–6. doi:10.1016/j.febslet.2005.01.022. PMID 15710417. S2CID 8214807.
External links
- GeneReviews/NCBI/NIH/UW entry on Emery–Dreifuss muscular dystrophy
- FHL1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.