PMID- 10051403 OWN - NLM STAT- MEDLINE DCOM- 19990422 LR - 20211203 IS - 0888-7543 (Print) IS - 0888-7543 (Linking) VI - 56 IP - 2 DP - 1999 Mar 1 TI - Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS). PG - 179-83 AB - Human DCAMKL1, also known as KIAA0369, is a homologue of DCX (Xq22. 3), a gene associated with X-linked lissencephaly and subcortical band heterotopia. This suggests that DCAMKL1 may play a role in neuronal migration. The gene also shows similarity to Ca2+/calmodulin-dependent protein kinases. We have determined its genomic structure, regional mapping, and expression pattern in human tissues. DCAMKL1 consists of at least 18 exons ranging from 58 to 3359 bp in length. We have characterized the exon/intron borders, and primers were designed to amplify each individual exon for mutation analysis. DCAMKL1 was mapped to chromosome 13q13 by fluorescence in situ hybridization. Northern blot analysis showed DCAMKL1 to be predominantly expressed in human fetal brain as a major transcript of about 5.8 kb. CI - Copyright 1999 Academic Press. FAU - Matsumoto, N AU - Matsumoto N AD - Department of Human Genetics, The University of Chicago, 924 E. 57th Street, Chicago, Illinois 60637, USA. FAU - Pilz, D T AU - Pilz DT FAU - Ledbetter, D H AU - Ledbetter DH LA - eng SI - GENBANK/AB002367 PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genomics JT - Genomics JID - 8800135 RN - 0 (DCX protein, human) RN - 0 (Doublecortin Domain Proteins) RN - 0 (Doublecortin Protein) RN - 0 (Intracellular Signaling Peptides and Proteins) RN - 0 (Microtubule-Associated Proteins) RN - 0 (Neuropeptides) RN - 0 (Phosphoproteins) RN - EC 2.7.1.11 (DCLK1 protein, human) RN - EC 2.7.1.11 (Doublecortin-Like Kinases) RN - EC 2.7.11.1 (Protein Serine-Threonine Kinases) SB - IM MH - Brain/embryology/metabolism MH - Chromosome Mapping MH - Chromosomes, Human, Pair 13/genetics MH - Doublecortin Domain Proteins MH - Doublecortin Protein MH - Doublecortin-Like Kinases MH - Exons MH - Female MH - Gene Expression MH - Gene Expression Regulation, Developmental MH - Genes/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Intracellular Signaling Peptides and Proteins MH - Introns MH - Male MH - *Microtubule-Associated Proteins MH - Molecular Sequence Data MH - Neuropeptides/*genetics/metabolism MH - Phosphoproteins/*genetics MH - Protein Serine-Threonine Kinases MH - Tissue Distribution MH - Transcription, Genetic EDAT- 1999/03/03 00:00 MHDA- 1999/03/03 00:01 CRDT- 1999/03/03 00:00 PHST- 1999/03/03 00:00 [pubmed] PHST- 1999/03/03 00:01 [medline] PHST- 1999/03/03 00:00 [entrez] AID - S0888-7543(98)95673-7 [pii] AID - 10.1006/geno.1998.5673 [doi] PST - ppublish SO - Genomics. 1999 Mar 1;56(2):179-83. doi: 10.1006/geno.1998.5673.