Department of Medical Research, Mackay Memorial Hospital, No. 45, Min-Sheng Road, Tanshui, Taipei 251, Taiwan, ROC. hhlee@ms1.mmh.org.tw
Molecular genetics and metabolism 2005 JanTwo types of chimeric RCCX modules found in chromosome 6p21.3 are the chimeras CYP21P/CYP21 and TNXA/TNXB. The CYP21P-specific sequence of chimera CYP21P/CYP21 has the 5'-end in common, but differs in the 3'-end of CYP21-specific genes. The sequence organization of the gene array is C4A-CYP21P/CYP21-TNXB, whereas chimera TNXA/TNXB is caused by a CYP21 deletion, and a partial TNXB replaced by the TNXA gene shows the C4A-CYP21P-TNXA/TNXB sequence. Therefore, chimeras CYP21P/CYP21 and TNXA/TNXB are two distinct hybrid genes produced in the RCCX module in HLA class III. In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH.
Hsien-Hsiung Lee. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module. Molecular genetics and metabolism. 2005 Jan;84(1):4-8
PMID: 15639189
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