Physical map and functional studies of the juxtacentromeric region of chromosome 13
- Universite Rene Descartes-Paris (France); and others
The structure of the juxtacentromeric region of chromosome 13 has been analyzed in order to investigate a putative position effect of the centromeric heterochromatin and to provide a physical landmark needed in the positional cloning of the autosomal recessive muscular dystrophy gene (SCARMD1). A genomic fragment corresponding to the insertion of a L1 sequence in juxtacentromeric block of satellite 3 has been cloned after PCR amplification of a somatic hybrid containing human chromosome 13 only. The sequence defines a new family of satellite 3 DNA and belongs to the heterochromatin region of chromosome 13. Human satellite 2 and 3 sequences are methylated in every cell except in the germ cell line and extra-embryonic tissues. In ICF syndrome, the alteration of the chromatin structure is associated with a deficit or complete absence of methylation of satellite 2 and 3 sequences. Cloning junctional euchromatic sequences immediately adjacent to heterochromatin will help to characterize the methylation pattern of non-satellite heterochromatized sequences in normal cells and methylation-deficient patients.
- OSTI ID:
- 134421
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1155
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
GENETIC MAPPING
DNA-CLONING
HUMAN CHROMOSOME 13
CENTROMERES
DISEASES
MUSCLES
PATIENTS
HEREDITARY DISEASES
STRUCTURE-ACTIVITY RELATIONSHIPS
SOMATIC CELLS
HYBRIDIZATION
DNA
METHYLATION
HETEROCHROMATIN
RECESSIVE MUTATIONS
POLYMERASE CHAIN REACTION
DNA SEQUENCING
NUCLEOTIDES