Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion
Journal Article
·
· American Journal of Human Genetics
OSTI ID:446939
- Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States); and others
It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion. 50 refs., 7 figs., 1 tab.
- OSTI ID:
- 446939
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 58; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Evidence that meiotic pairing starts at the telomeres: Molecular analysis of recombination in a family with a pericentric X chromosome inversion
Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy
Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:133757
Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy
Journal Article
·
Mon Feb 28 23:00:00 EST 1994
· American Journal of Medical Genetics
·
OSTI ID:86551
Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy
Journal Article
·
Tue Aug 01 00:00:00 EDT 1995
· American Journal of Human Genetics
·
OSTI ID:105240