Characterisation and mapping of the human SOX14 gene

SOX genes comprise a family of genes that are related to the mammalian sex determining gene SRY in the region that encodes the HMG-box domain responsi ble for the sequence-specific DNA-binding activity. SOX genes encode putati ve transcriptional regulators implicated in the decision of cell fates duri ng development and the control of diverse developmental processes. We have cloned and characterised SOX14, a novel member of the human SOX gen e family. Based on the HMG-box sequence, human SOX14 is a member of the B s ubfamily. SOX 14 is expressed in human foetal brain, spinal cord and thymus , and like other members of the B subfamily, it might have a role in regula tion of nervous system development. While other members of the B subfamily show similarity outside the HMG-box, the regions flanking the HMG box of th e human SOX14 gene are unique. SOX14 has been mapped to human chromosome 3q22 --> q23, close to the marker D3S1549. This location places SOX 14 within a chromosome interval associat ed with two distinct syndromes that affect craniofacial development: Blepha rophimosis-ptosis-epicantus inversus syndrome and Mobius syndrome.