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DYM

{{Short description|Protein-coding gene in the species Homo sapiens}}

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Dymeclin is a protein that in humans is encoded by the DYM gene.{{cite web | title = Entrez Gene: DYM dymeclin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54808| accessdate = }}

This gene encodes a protein which is necessary for normal skeletal development and brain function and has been first described and named in 2003.{{cite journal | last=El Ghouzzi | first=V. | title=Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome | journal=Human Molecular Genetics | publisher=Oxford University Press (OUP) | volume=12 | issue=3 | date=2003-02-01 | issn=1460-2083 | doi=10.1093/hmg/ddg029 | pages=357–364 |pmid=12554689}} 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.

References

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Further reading

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  • {{cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
  • {{cite journal | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |display-authors=etal}}
  • {{cite journal | vauthors=Ehtesham N, Cantor RM, King LM |title=Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12 |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 947–51 |year= 2002 |pmid= 12161821 |doi=10.1086/342669 | pmc=378548 |display-authors=etal}}
  • {{cite journal | vauthors=Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W |title=Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1 |journal=J. Med. Genet. |volume=39 |issue= 10 |pages= 714–7 |year= 2002 |pmid= 12362026 |doi=10.1136/jmg.39.10.714 | pmc=1734996 |display-authors=etal}}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Cohn DH, Ehtesham N, Krakow D |title=Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene |journal=Am. J. Hum. Genet. |volume=72 |issue= 2 |pages= 419–28 |year= 2003 |pmid= 12491225 |doi=10.1086/346176 | pmc=420018 |display-authors=etal}}
  • {{cite journal | vauthors=El Ghouzzi V, Dagoneau N, Kinning E |title=Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome |journal=Hum. Mol. Genet. |volume=12 |issue= 3 |pages= 357–64 |year= 2003 |pmid= 12554689 |doi=10.1093/hmg/ddg029 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal | vauthors=Clark TA, Schweitzer AC, Chen TX |title=Discovery of tissue-specific exons using comprehensive human exon microarrays |journal=Genome Biol. |volume=8 |issue= 4 |pages= R64 |year= 2007 |pmid= 17456239 |doi= 10.1186/gb-2007-8-4-r64 | pmc=1896007 |display-authors=etal |doi-access=free }}

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