title: Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation.
abstract: Human systemic carnitine deficiency (SCD) is a hereditary disease caused by the mutation of OCTN2 and has the characteristics of cardiac hypertrophy. Previous studies based on JVS mouse, an animal model of this disease, showed that Cdv-1 was highly expressed in ventricles of normal mouse, but was remarkably down-regulated in JVS mouse and can be up-regulated to normal level by breeding carnitine, which suggested Cdv-1 was possibly involved in cardiac hypertrophy caused by carnitine deficiency. In this study, the expression of human CDV-1, a homolog of mouse Cdv-1, was undetectable in heart by northern hybridization. The inconsistent expression levels of human CDV-1 and mouse Cdv-1 in heart implied that cardiac hypertrophy in human SCD might not be associated with the abnormal expression of CDV-1. Interestingly, another long transcripts of the gene, Cdv-1R/CDV-1R, were cloned in the present study, in mouse and human, respectively. This long transcript predominantly expressed in both human and mouse testis and its expression level was increased with testis development. Furthermore, we proved that the open reading frame of Cdv-1R/CDV-1R spans the exons 2 approximately 19 instead of exons 9 approximately 19; and the peptide encoded by CDV-1R was composed of 676 amino acids containing a putative signal peptide instead of 414 amino acids described previously. In addition, it was proved that the expression level of Cdv-1R in JVS mouse testis was as high as that in normal mouse testis, and both were not regulated by carnitine.
authors.affiliation: State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Science, Fudan University, Shanghai 200433, People's Republic of China.
authors.forename: Jisong
authors.initials: J
authors.lastname: Peng
authors.forename: Long
authors.initials: L
authors.lastname: Yu
authors.forename: Masahisa
authors.initials: M
authors.lastname: Horiuchi
authors.forename: Pingzhao
authors.initials: P
authors.lastname: Zhang
authors.forename: Xinghua
authors.initials: X
authors.lastname: Huang
authors.forename: Yazhou
authors.initials: Y
authors.lastname: Zhang
authors.forename: Dan
authors.initials: D
authors.lastname: Li
authors.forename: Md Abdul
authors.initials: MA
authors.lastname: Jalil
authors.forename: Shouyyan
authors.initials: S
authors.lastname: Zhao
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002331:Carnitine / Q000494:pharmacology; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D020869:Gene Expression Profiling; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008297:Male; D051379:Mice; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D009928:Organ Specificity; D021382:Protein Sorting Signals; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012741:Sexual Maturation; D013737:Testis / Q000378:metabolism*
chemical_list: D018076:DNA, Complementary; C481012:IFT81 protein, human; C106619:Ift81 protein, mouse; D008869:Microtubule-Associated Proteins; D009124:Muscle Proteins; D021382:Protein Sorting Signals; D012333:RNA, Messenger; D002331:Carnitine