The Human Homolog of Insect-Derived Growth Factor, CECR1, Is a Candidate Gene for Features of Cat Eye Syndrome
| Autor: | S. Phan, Polly Brinkman-Mills, Shinsei Minoshima, Bruce A. Roe, Manuel Buchwald, M. A. Riazi, Y. Shimizu, J. Tochigi, Thuan Nguyen, Huaqin Pan, Heather E. McDermid, Fu Ying, Nobuyoshi Shimizu |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
Heart Defects Congenital Sarcophaga peregrina Candidate gene Adenosine Deaminase Chromosomes Human Pair 22 Molecular Sequence Data ved/biology.organism_classification_rank.species Chromosome Disorders Biology Anus Imperforate Fetus Exon trapping Gene duplication Gene expression Genetics medicine Humans Abnormalities Multiple Amino Acid Sequence Growth Substances Gene In Situ Hybridization Chromosome Aberrations Base Sequence Reverse Transcriptase Polymerase Chain Reaction ved/biology Alternative splicing Chromosome Mapping Syndrome Blotting Northern medicine.disease Molecular biology Cat eye syndrome Coloboma Alternative Splicing Blotting Southern Organ Specificity Insect Proteins Intercellular Signaling Peptides and Proteins Sequence Alignment |
| Zdroj: | Genomics. 64:277-285 |
| ISSN: | 0888-7543 |
| Popis: | Cat eye syndrome (CES) is a developmental disorder with multiple organ involvement, associated with the duplication of a 2-Mb region of 22q11.2. Using exon trapping and genomic sequence analysis, we have isolated and characterized a gene, CECR1, that maps to this critical region. The protein encoded by CECR1 is similar to previously identified novel growth factors: IDGF from Sarcophaga peregrina (flesh fly) and MDGF from Aplysia californica (sea hare). The CECR1 gene is alternatively spliced and expressed in numerous tissues, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In situ hybridization of a human embryo shows specific expression in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord. The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the heart defects. |
| Databáze: | OpenAIRE |
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