Quantitative analysis of alternative transcripts of human PCDH11X/Y genes

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2010-04, Vol.153B (3), p.736-744
• Main Authors: Ahn, Kung, Huh, Jae-Won, Kim, Dae-Soo, Ha, Hong-Seok, Kim, Yun-Ji, Lee, Ja-Rang, Kim, Heui-Soo
• Format: Article
• Language: English
• Subjects: Alternative splicing; Alternative Splicing - genetics; alternative transcripts; Amino Acid Sequence; Asymmetry; Base Sequence; Biological and medical sciences; Brain; Brain - metabolism; brain disorders; Cadherins - chemistry; Cadherins - genetics; Cadherins - metabolism; double prime y gene; gene expression; Gene Expression Profiling; Glands; human brain; Humans; Kidney; Liver; Medical genetics; Medical sciences; Mental disorders; Molecular Sequence Data; Organ Specificity - genetics; PCDH11X/Y; Protein Structure, Tertiary; protocadherin; Psychosis; real-time RT-PCR; Reference Standards; RNA, Messenger - genetics; RNA, Messenger - metabolism
• ISSN: 1552-4841; 1552-485X; 1552-485X
• DOI: 10.1002/ajmg.b.31041

The Protocadherin 11X/Y (PCDH11X/Y) gene pair has been proposed as a carrier of the variation relating to cerebral asymmetry and psychosis on the ground that the Y gene was generated by duplication at 6 million years (close to the chimpanzee–human separation) and there is a case for an X/Y determinant of cerebral asymmetry. The present article investigated the patterns of alternative splicing and expression of the PCDH11X/Y genes. Twelve alternative transcripts of PCDH11X/Y genes were presently identified by in silico analysis. To investigate the biological roles of alternative transcripts of PCDH11X/Y genes, the transcripts were analyzed by real‐time reverse transcription‐polymerase chain reaction amplification. A total of 31 normal tissues including 11 different regions of human brain were used to investigate a wide spectrum of expression profiles. Dominant expression patterns were identified in several tissues (Tx1‐fetal liver; Tx3‐adult brain; Tx4‐adult brain and kidney; Tx5‐bone marrow; Ty1‐fetal brain; Ty2‐adrenal gland). Tx4 transcripts showed specific expression patterns in olfactory tissues. The findings can guide functional investigation of neuropsychiatric disorders. © 2009 Wiley‐Liss, Inc.