Mapping, Characterization, and Expression Analysis of the SM-20 Human Homologue, C1orf12, and Identification of a Novel Related Gene, SCAND2

Major psychosis was shown to segregate with a balanced translocation (1q42.1; 11q14.3) in a multigenerational family. This study describes the identification of a human SM-20 homologue gene that lies at about 400 kb on the centromeric side of the 1q42.1 breakpoint. The full-length cDNA sequence and...

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Vydáno v:	Genomics (San Diego, Calif.) Ročník 69; číslo 3; s. 348 - 354
Hlavní autoři:	Dupuy, Denis, Aubert, Incarnation, Dupérat, Véronique Guyonnet, Petit, Joëlle, Taine, Laurence, Stef, Marianne, Bloch, Bertrand, Arveiler, Benoı̂t
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	San Diego, CA Elsevier Inc 01.11.2000 Elsevier
Témata:	Adult Amino Acid Sequence Animals Base Sequence Biological and medical sciences chromosome 15 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 15 Cloning, Molecular Contig Mapping CpG Islands DNA, Complementary DNA-Binding Proteins Exons Fundamental and applied biological sciences. Psychology Gene Expression Genes. Genome Humans Hypoxia-Inducible Factor-Proline Dioxygenases Immediate-Early Proteins - genetics Molecular and cellular biology Molecular genetics Molecular Sequence Data Procollagen-Proline Dioxygenase Proteins - classification Proteins - genetics Pseudogenes Rats SCAND2 gene Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid SM-20 gene TATA Box Zinc Fingers Chromosomal aberration Genetic mapping Human Breakpoint Nucleotide sequence Chromosome A1 Critical region Homology Gene organization Gene expression Psychosis Chromosome D15 Abnormal chromosome Chromosome translocation
ISSN:	0888-7543, 1089-8646
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Shrnutí:	Major psychosis was shown to segregate with a balanced translocation (1q42.1; 11q14.3) in a multigenerational family. This study describes the identification of a human SM-20 homologue gene that lies at about 400 kb on the centromeric side of the 1q42.1 breakpoint. The full-length cDNA sequence and gene structure were determined. Expression analysis was performed, showing high expression levels in skeletal and cardiac muscles; in the central nervous system, expression was restricted to dopaminergic neurons and spinal motoneurons. A second gene displaying high sequence similarity with SM-20 was also identified by BLAST. This gene, located on chromosome 15, is likely to have evolved by retroposition of SM-20 mRNA and an exon-shuffling mechanism. It encodes a 306-amino-acid protein harboring strong homology with an N-terminal motif found in some zinc-finger proteins. This gene was named SCAND2 (SCAN domain-containing 2).
Bibliografie:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0888-7543 1089-8646
DOI:	10.1006/geno.2000.6343