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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Veröffentlicht in:Genomics (San Diego, Calif.) Jg. 69; H. 3; S. 348 - 354
Hauptverfasser: Dupuy, Denis, Aubert, Incarnation, Dupérat, Véronique Guyonnet, Petit, Joëlle, Taine, Laurence, Stef, Marianne, Bloch, Bertrand, Arveiler, Benoı̂t
Format: Journal Article
Sprache:Englisch
Veröffentlicht: San Diego, CA Elsevier Inc 01.11.2000
Elsevier
Schlagworte:
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
Online-Zugang:Volltext
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Zusammenfassung: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).
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ISSN:0888-7543
1089-8646
DOI:10.1006/geno.2000.6343