Progress in molecular genetics of hereditary alopecia/hypotrichosis

Abstract

Hereditary alopecia/hypotrichosis is a large group of rare genetic disorders characterized by hair loss. Many causative genes and their corresponding chromosomal locations have been identified for several types of hereditary alopecia/hypotrichosis in recent years, including Marie-Unna hereditary hypotrichosis （U2HR, 8p21.3）, autosomal dominant hypotrichosis simplex （APCDD1, 18p11.22; RPL21, 13q12）, autosomal recessive hypotrichosis simplex （DSG4, 18q12.1; DSC3, 18q21.1; LIPH, 3q26-27; P2RY5, 13q13-14; 10q11.23-22.3; ？p21.3-p22.3）, autosomal recessive woolly hair/hypotrichosis （LIPH, 3q26-27; P2RYS, 13q13- 14）, autosomal dominant woolly hair/hypotrichosis （KRT74, 12q12-14） and ichthyosis follicularis-alopecia- photophobia syndrome （MBTPS2, Xp22）. These genes play critical roles in the regulation of hair follicle morphogenesis and growth cycles, and their pathogenic mutations may lead to abnormality in hair follicle morphogenesis and development, thus result in alopecia/hypotrichosis. Key words: Alopecia; Heredity; Molecular biology; Genes; Mutation