J. Hou, J. Parrish, J. Siegel, M. Sapru, Y. Wang, A. Hill, H. Northrup,
F.F.B. Elder,
E. A. Haan, H. Ludecke, B. Horstemke, M.J. Wagner and D.E. Wells. (1995)
A YAC contig spanning the LGS region on human chromosome 8: Sublocalization of
EXTI and TRPSI. Genomics 29:87-97.
Abstract
We have constructed a physical map covering over 4 million base pairs of human
chromosome 8q24.1, and used this map to refine the locations of the genes responsible
for Langer-Giedion syndrome. The map is composed of overlapping YAC clones that were
identified and ordered in relation to sequence tagged sites mapped to the
Langer-Giedion chromosomal region on somatic cell hybrids. The minimal region of
overlap of Langer-Giedion syndrome deletions, previously identified by analysis of
15 patients, was placed on the map by analysis of two patients whose deletions define
the endpoints. The chromosome 8 breakpoint of a balanced t(8;9)(q24.11;q33.3)
translocation from a patient with trichorhino phalangeal syndrome (TRPS I) was
found to be located just within the proximal end of the minimal deletion region.
A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap
the distal end of the LGS deletion region, indicating that the EXT1 gene is distal
to the TRPS I gene, and supporting the hypothesis that Langer-Giedion syndrome is
due to loss of functional copies of both the TRPS I and EXT1 genes.
Click here to see the LGS physical map LGS map
