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Physical, genetic and transcript map of a region of human chromosome X

Research was carried out in order to construct physical maps, genetic maps and transcript maps for the juxtacentromeric region of the human X chromosome. The physical maps were generated using yeast artificial chromosome (YAC) clones and the genetic map was generated by isolating new microsatellite polymorphisms from the cloned deoxyribonucleic acid (DNA). The transcript map was constructed using several approaches to isolate new genes from cloned DNA.

Substantial progress has been made with respect to the construction of the map of the Xcen-Xq13.3 region. Approximately 85% of the region is covered in existing YAC clones and end fragments are being rescreened on the Imperial Cancer Research Fund (ICRF) and Centre d'Etude du Polymorphisme Humain (CEPH) YAC libraries to close the 6 remaining gaps. There are 16 microsatellites in the region, 5 of which were newly derived and 11 of which were fine mapped using the YAC clones. These new genetic markers and refined localizations are being used by the X chromosome community to make a high resolution genetic map and to define the position of several disease genes such as X-linked mental retardation and DYT3. The transcript map was initially focussed on chromosome breakpoints giving rise to Menkes disease (MNK), ectodermal dysplasia (EDA) and acute myeloid leukaemia (AML) with sideroblasts. Many new genes have been identified in the region using more comprehensive methods such as exon amplification and complimentary deoxyribonucleic acid (cDNA) selection. The integrated map that has been developed will continue to be useful in the mapping of new genes in the region that are identified in other labs.

Major breakthroughs occurred with respect to the construction of YAC contigs for 85% of the region, the generation of a dense microsatellite genetic map, the identification of 8 new genes, the precise mapping of 6 disease loci and the isolation by positional cloning of the genes for Menkes disease and Charcot-Marie-Tooth neuropathy.

Reported by

University of Oxford
Windmill Road Headington
OX3 7BN Oxford
United Kingdom
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