title: The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.
abstract: 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.
authors.affiliation: Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
authors.forename: M A
authors.initials: MA
authors.lastname: Riazi
authors.forename: P
authors.initials: P
authors.lastname: Brinkman-Mills
authors.forename: T
authors.initials: T
authors.lastname: Nguyen
authors.forename: H
authors.initials: H
authors.lastname: Pan
authors.forename: S
authors.initials: S
authors.lastname: Phan
authors.forename: F
authors.initials: F
authors.lastname: Ying
authors.forename: B A
authors.initials: BA
authors.lastname: Roe
authors.forename: J
authors.initials: J
authors.lastname: Tochigi
authors.forename: Y
authors.initials: Y
authors.lastname: Shimizu
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: M
authors.initials: M
authors.lastname: Buchwald
authors.forename: H E
authors.initials: HE
authors.lastname: McDermid
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000243:Adenosine Deaminase; D000328:Adult; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001006:Anus, Imperforate / Q000235:genetics; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003103:Coloboma / Q000235:genetics; D005333:Fetus / Q000378:metabolism; D006133:Growth Substances / Q000235:genetics* / Q000378:metabolism; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D019476:Insect Proteins / Q000235:genetics; D036341:Intercellular Signaling Peptides and Proteins; D008969:Molecular Sequence Data; D009928:Organ Specificity; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D013577:Syndrome
chemical_list: D006133:Growth Substances; D019476:Insect Proteins; D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase