נגישות
menu      
Advanced Search
Syntax
Search...
Volcani treasures
About
Terms of use
Manage
Community:
אסיף מאגר המחקר החקלאי
Powered by ClearMash Solutions Ltd -
Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13
Year:
2001
Source of publication :
European Journal of Human Genetics
Authors :
Shemesh, Moshe
;
.
Volume :
9
Co-Authors:
Eisenberg, I., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Hochner, H., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Shemesh, M., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Levi, T., Department of Genetics, Harvard Medical School, Boston, MA 02115, United States
Potikha, T., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Sadeh, M., Department of Neurology, Wolfson Hospital, Holon, Israel
Argov, Z., Department of Neurology, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Jackson, C.L., Department of Pathology, Rhode Island Hospital, Brown University, Providence, RI 02192, United States
Mitrani-Rosenbaum, S., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Facilitators :
From page:
501
To page:
509
(
Total pages:
9
)
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.
Note:
Related Files :
Female
gene expression
genetic markers
inclusion body myopathy
Male
Show More
Related Content
More details
DOI :
10.1038/sj.ejhg.5200665
Article number:
Affiliations:
Database:
Scopus
Publication Type:
article
;
.
Language:
English
Editors' remarks:
ID:
29596
Last updated date:
02/03/2022 17:27
Creation date:
17/04/2018 00:48
You may also be interested in
Scientific Publication
Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13
9
Eisenberg, I., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Hochner, H., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Shemesh, M., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Levi, T., Department of Genetics, Harvard Medical School, Boston, MA 02115, United States
Potikha, T., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Sadeh, M., Department of Neurology, Wolfson Hospital, Holon, Israel
Argov, Z., Department of Neurology, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Jackson, C.L., Department of Pathology, Rhode Island Hospital, Brown University, Providence, RI 02192, United States
Mitrani-Rosenbaum, S., Unit for Development of Molecular Biology and Genetic Engineering, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem 91240, Israel
Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13
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.
Scientific Publication
You may also be interested in