Transcription map of Xq27: Candidates for several X-linked diseases

Ileana Zucchi, Jonathan Jones, Maurizio Affer, Cristina Montagna, Elena Redolfi, Lucia Susani, Paolo Vezzoni, Ruti Parvari, David Schlessinger, Michael P. Whyte, Steven Mumm

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Human Xq27 contains candidate regions for several disorders, yet is predicted to be a gene-poor cytogenetic band. We have developed a transcription map for the entire cytogenetic band to facilitate the identification of the relatively small number of expected candidate genes. Two approaches were taken to identify genes: (1) a group of 64 unique STSs that were generated during the physical mapping of the region were used in RT-PCR with RNA from human adult and fetal brain and (2) ESTs that have been broadly mapped to this region of the chromosome were finely mapped using a high-resolution yeast artificial chromosome contig. This combined approach identified four distinct regions of transcriptional activity within the Xq27 band. Among them is a region at the centromeric boundary that contains candidate regions for several rare developmental disorders (X-linked recessive hypoparathyroidism, thoracoabdominal syndrome, albinism-deafness syndrome, and Borjeson-Forssman-Lehman syndrome). Two transcriptionally active regions were identified in the center of Xq27 and include candidate regions for X-linked mental retardation syndrome 6, X-linked progressive cone dystrophy, X-linked retinitis pigmentosa 24, and a prostate cancer susceptibility locus. The fourth region of transcriptional activity encompasses the FMR1 (FRAXA) and FMR2 (FRAXE) genes. The analysis thus suggests clustered transcription in Xq27 and provides candidates for several heritable disorders for which the causative genes have not yet been found.

Original languageEnglish (US)
Pages (from-to)209-218
Number of pages10
Issue number2
StatePublished - Apr 15 1999
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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