Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module

Mol Genet Metab. 2005 Jan;84(1):4-8. doi: 10.1016/j.ymgme.2004.09.009. Epub 2004 Nov 11.

Abstract

Two 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.

Publication types

  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Ehlers-Danlos Syndrome / genetics*
  • Ethnicity / genetics*
  • Gene Components
  • Gene Deletion
  • Haplotypes / genetics
  • Humans
  • Major Histocompatibility Complex / genetics
  • Mutation / genetics
  • Proteins / genetics*
  • Pseudogenes / genetics
  • Recombination, Genetic / genetics*
  • Steroid 21-Hydroxylase / genetics*
  • Tenascin

Substances

  • Proteins
  • TNXA protein, human
  • Tenascin
  • Steroid 21-Hydroxylase