Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene

The human Xq11-Xq21.3 region has been implicated in several inherited disor ders including dystonia-parkinsonism (DYT3), sideroblastic anemia and sever al specific and non-specific forms of mental retardation (NIR) syndromes. A s part of a positional cloning effort to identify MR genes, we have generat ed a YAC-based transcript map. We first constructed a YAC/STS framework by extending previously published contigs. This framework map consists of a mi nimal set of 119 clones, covering approximately 20 Megabases (Mb) and allow ing the precise ordering of 71 STSs between DXS136 and DXS472. This YAC con tig was then used to define the positions of genes and expressed sequence t ags (ESTs) assigned to the Xcen-Xq21.3 region. In addition to the genes pre viously localized to this part of the X chromosome, 18 transcription units corresponding to additional known genes or gene family members, one pseudog ene and 15 novel transcripts were mapped. This transcriptional map incorpor ates 51 transcription units and provides a useful resource of candidate gen es for some of the disorders assigned to this region of the X chromosome. ( C) 1999 Elsevier Science B.V. All rights reserved.