Connexin32 mutations and Xq13 physical map
Journal Article
·
· American Journal of Human Genetics
OSTI ID:134803
- Univ. of Pennsylvania School of Medicine, Philadelphia (United States)
- Columbia Univ., New York, NY (United States); and others
Mutations in the gap junction protein connexin32 (Cx32) are associated with X-linked Charcot-Marie-Tooth disease (CMTX). We and others have identified 24 separate mutations in 27 families. The third transmembrane domain of Cx32 has two mutations that occur in multiple families: three unrelated families have the same missense mutation at codon 139 (Val to Met), and two additional unrelated families have a single base change in codon 142 (Arg to Trp). In order to physically map the region surrounding the Cx32 gene and identify regulatory sequences that could be affected by additional mutations, we are developing a contiguous set of YAC clones for the region (Xq13.1-13.3). The YACs were identified primarily by PCR-based screening of total genomic YAC libraries from CEPH and Genethon. Additional YACs were obtained from collaborating investigators and a local library. A total of 41 overlapping YACs were identified with the STSs DXS106, DXS453, DXS348, IL2RG, GJB1(Cx32), CCG1, DXS559, DXS227, DXS986, DXS1197, and DXS128. Overlap between the YACs was determined by shared STS content and by appearance of identical segments in inter-Alu PCR. The set of overlapping YAC clones helps to define the relationship between CMTX/Cx32 and the nearby gene for severe combined immunodeficiency syndrome (SCIDX/IL2RG), and it is now being used in localization of the gene for dystonia-parkinsonism syndrome (lubag disease, DYT3), which also maps to this region.
- OSTI ID:
- 134803
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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