DYM explained

Dymeclin is a protein that in humans is encoded by the DYM gene.^[1]

This gene encodes a protein which is necessary for normal skeletal development and brain function and has been first described and named in 2003.^[2] Mutations in this gene are associated with two types of recessive osteochondrodysplasias, Dyggve-Melchior-Clausen (DMC) syndrome, which involves both skeletal defects and postnatal microcephaly with intellectual deficiency, and Smith-McCort (SMC) dysplasia, which involves skeletal defects only.^[1]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.
• Ehtesham N, Cantor RM, King LM . Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12 . Am. J. Hum. Genet. . 71 . 4 . 947–51 . 2002 . 12161821 . 10.1086/342669 . 378548 . etal.
• Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W . Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1 . J. Med. Genet. . 39 . 10 . 714–7 . 2002 . 12362026 . 10.1136/jmg.39.10.714 . 1734996 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . etal. free .
• Cohn DH, Ehtesham N, Krakow D . Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene . Am. J. Hum. Genet. . 72 . 2 . 419–28 . 2003 . 12491225 . 10.1086/346176 . 420018 . etal.
• El Ghouzzi V, Dagoneau N, Kinning E . Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome . Hum. Mol. Genet. . 12 . 3 . 357–64 . 2003 . 12554689 . 10.1093/hmg/ddg029 . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . 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 . etal.
• Clark TA, Schweitzer AC, Chen TX . Discovery of tissue-specific exons using comprehensive human exon microarrays . Genome Biol. . 8 . 4 . R64 . 2007 . 17456239 . 10.1186/gb-2007-8-4-r64 . 1896007 . etal . free .

Notes and References

1. Web site: Entrez Gene: DYM dymeclin.
2. El Ghouzzi . V. . Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome . Human Molecular Genetics . Oxford University Press (OUP) . 12 . 3 . 2003-02-01 . 1460-2083 . 10.1093/hmg/ddg029 . 357–364 . 12554689.