TY - JOUR
T1 - Transcription map of Xq27
T2 - Candidates for several X-linked diseases
AU - Zucchi, Ileana
AU - Jones, Jonathan
AU - Affer, Maurizio
AU - Montagna, Cristina
AU - Redolfi, Elena
AU - Susani, Lucia
AU - Vezzoni, Paolo
AU - Parvari, Ruti
AU - Schlessinger, David
AU - Whyte, Michael P.
AU - Mumm, Steven
N1 - Funding Information:
This work has been supported by Grant E415 from Telethon to I.Z. and by NIH HD33013. S.M. was supported by a fellowship from the Shriners Hospitals for Children. This paper is Contribution No. 26 from the Genoma 2000-ITBA Project funded by CARIPLO.
PY - 1999/4/15
Y1 - 1999/4/15
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1999.5768
DO - 10.1006/geno.1999.5768
M3 - Article
C2 - 10198160
AN - SCOPUS:0344326301
SN - 0888-7543
VL - 57
SP - 209
EP - 218
JO - Genomics
JF - Genomics
IS - 2
ER -
