LMBR1 explained

Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.^{[1] [2] [3]}

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog (protein) gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but if this gene functions directly in limb development is unknown. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression.^[3]

Further reading

• Hing AV, Helms C, Slaugh R, etal . Linkage of preaxial polydactyly type 2 to 7q36. . Am. J. Med. Genet. . 58 . 2 . 128–35 . 1996 . 8533803 . 10.1002/ajmg.1320580208 .
• Toward a complete human genome sequence. . Genome Res. . 8 . 11 . 1097–108 . 1999 . 9847074 . 10.1101/gr.8.11.1097. Sanger Centre . The . Washington University Genome Sequencing Cente . The . free .
• Clark RM, Marker PC, Kingsley DM . A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. . Genomics . 67 . 1 . 19–27 . 2001 . 10945466 . 10.1006/geno.2000.6225 .
• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination. . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Dundar M, Gordon TM, Ozyazgan I, etal . A novel acropectoral syndrome maps to chromosome 7q36. . J. Med. Genet. . 38 . 5 . 304–9 . 2001 . 11333865 . 10.1136/jmg.38.5.304 . 1734869 .
• Clark RM, Marker PC, Roessler E, etal . Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. . Genetics . 159 . 2 . 715–26 . 2002 . 10.1093/genetics/159.2.715 . 11606546 . 1461845 .
• Lettice LA, Horikoshi T, Heaney SJ, etal . Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 11 . 7548–53 . 2002 . 12032320 . 10.1073/pnas.112212199 . 124279 . free . 2002PNAS...99.7548L .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Horikoshi T, Endo N, Shibata M, etal . Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice. . J. Bone Miner. Metab. . 21 . 1 . 1–4 . 2003 . 12491086 . 10.1007/s007740300000 . 13391423 .
• Scherer SW, Cheung J, MacDonald JR, etal . Human chromosome 7: DNA sequence and biology. . Science . 300 . 5620 . 767–72 . 2003 . 12690205 . 2882961 . 10.1126/science.1083423 . 2003Sci...300..767S .
• Lettice LA, Heaney SJ, Purdie LA, etal . A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. . Hum. Mol. Genet. . 12 . 14 . 1725–35 . 2003 . 12837695 . 10.1093/hmg/ddg180 . free .
• Hillier LW, Fulton RS, Fulton LA, etal . The DNA sequence of human chromosome 7. . Nature . 424 . 6945 . 157–64 . 2003 . 12853948 . 10.1038/nature01782 . 2003Natur.424..157H . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Sagai T, Masuya H, Tamura M, etal . Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh). . Mamm. Genome . 15 . 1 . 23–34 . 2004 . 14727139 . 10.1007/s00335-033-2317-5 . 21869000 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Wiemann S, Arlt D, Huber W, etal . From ORFeome to biology: a functional genomics pipeline. . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
• Mehrle A, Rosenfelder H, Schupp I, etal . The LIFEdb database in 2006. . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 .

Notes and References

1. Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P . A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36 . Genomics . 57 . 3 . 342–51 . Aug 1999 . 10329000 . 10.1006/geno.1999.5796 .
2. Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P . Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene . Am J Hum Genet . 68 . 1 . 38–45 . Jan 2001 . 11090342 . 1234933 . 10.1086/316955 .
3. Web site: Entrez Gene: LMBR1 limb region 1 homolog (mouse).