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 |
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| Médium: | Journal Article |
| Jazyk: | angličtina |
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San Diego, CA
Elsevier Inc
01.11.2000
Elsevier |
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| ISSN: | 0888-7543, 1089-8646 |
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| Abstract | 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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| AbstractList | 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). Copyright 2000 Academic Press. 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). 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).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). |
| Author | Aubert, Incarnation Taine, Laurence Arveiler, Benoı̂t Bloch, Bertrand Dupuy, Denis Petit, Joëlle Stef, Marianne Dupérat, Véronique Guyonnet |
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| Cites_doi | 10.1046/j.1471-4159.1999.0730429.x 10.1016/S0378-1119(99)00228-0 10.1016/0076-6879(92)16024-E 10.1016/S0006-3223(99)00067-0 10.1016/0022-2836(87)90418-9 10.1093/hmg/9.9.1415 10.1016/0092-8674(91)90245-T 10.1074/jbc.M000119200 10.1073/pnas.96.26.15202 10.1074/jbc.270.38.22143 10.1016/0140-6736(90)91520-K 10.1093/hmg/7.10.1611 10.1016/S0021-9258(18)99981-3 10.1002/cne.903600310 10.1002/(SICI)1096-9861(20000228)418:1<22::AID-CNE2>3.0.CO;2-Q 10.1128/MCB.19.12.8526 10.1016/S0022-2836(05)80360-2 |
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| Keywords | Chromosomal aberration Genetic mapping Human Breakpoint Nucleotide sequence Chromosome A1 Critical region Homology Gene organization Gene expression Psychosis Chromosome D15 Abnormal chromosome Chromosome translocation |
| Language | English |
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| SubjectTerms | 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 |
| Title | Mapping, Characterization, and Expression Analysis of the SM-20 Human Homologue, C1orf12, and Identification of a Novel Related Gene, SCAND2 |
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