 |
| Article |
| Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13 |
|
| Iris Eisenberg1, Hagit Hochner1, Moshe Shemesh1, Tatjana Levi2, Tamara Potikha1, Menachem Sadeh3, Zohar Argov4, Cynthia L Jackson5 and Stella Mitrani-Rosenbaum1 |
|
1The Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, The Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
2Department of Genetics, Harvard Medical School, Boston, Massachussets 02115, USA
3Department of Neurology, Wolfson Hospital, Holon, Israel
4Department of Neurology, Hadassah Hospital, The Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
5Department of Pathology, Rhode Island Hospital and Brown University, Providence, Rhode Island 02192, USA
|
|
Correspondence to: S Mitrani-Rosenbaum, The Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital-Mount Scopus, Jerusalem 91240, Israel. Tel: 972-2-5844724; Fax: 972-2-5819134; E-mail: stella@yam-suff.huji.ac.il
|
|
| Abstract |
| Hereditary inclusion body myopathy (HIBM) is a group of neuromuscular disorders characterised by adult-onset, slowly progressive distal and proximal muscle weakness and typical muscle pathology. Previously, we have mapped the gene responsible for a recessive form of HIBM to chromosome 9p1 and narrowed the interval to one single YAC clone of 1 Mb in size. As a further step towards the identification of the HIBM gene, we have constructed a detailed physical and transcriptional map of this region. A high resolution BAC contig that includes the HIBM critical region, flanked by marker 327GT4 and D9S1859, was constructed. This contig allowed the precise localisation of 25 genes and ESTs to the proximal region of chromosome 9. The expression pattern of those mapped genes and ESTs was established by Northern blot analysis. In the process of refining the HIBM interval, 13 new polymorphic markers were identified, of which 11 are CA-repeats, and two are single nucleotide polymorphisms. Certainly, this map provides an important integration of physical and transcriptional information corresponding to chromosome 9p12-p13, which is expected to facilitate the cloning and identification not only of the HIBM gene, but also other disease genes which map to this region. European Journal of Human Genetics (2001) 9, 501-509. |
|
| Keywords |
| chromosome 9; IBM2; physical and transcript map; BAC contig; polymorphisms; neuromuscular diseases. |
|
|
|
|
| Received 2 January 2001; revised 15 March 2001; accepted 6 April 2001 |
|
| July 2001, Volume 9, Number 7, Pages 501-509 |
| Table of contents Previous Abstract Next Article PDF |
|
