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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Frants, Rune R. Van Der Maarel, Silvère M. Lemmers, Richard J. L. F. Sandkuijl, Lodewijk A. Vrieling, Harry Van Overveld, Petra G. M. Padberg, George W. |
| Description | Country affiliation: Netherlands Author Affiliation: Lemmers RJ ( Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.) |
| Abstract | Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD1A) is associated with contractions of the polymorphic D4Z4 repeat on chromosome 4qter. Almost half of new FSHD mutations occur postfertilization, resulting in somatic mosaicism for D4Z4. Detailed D4Z4 analysis of 11 mosaic individuals with FSHD revealed a mosaic mixture of a contracted FSHD-sized allele and the unchanged ancestral allele in 8 cases, which is suggestive of a mitotic gene conversion without crossover. However, in 3 cases, the D4Z4 rearrangement resulted in two different-sized D4Z4 repeats, indicative of a gene conversion with crossover. In all cases, DNA markers proximal and distal to D4Z4 showed no allelic exchanges, suggesting that all rearrangements were intrachromosomal. We propose that D4Z4 rearrangements occur via a synthesis-dependent strand annealing model that relatively frequently allows for crossovers. Furthermore, the distribution of different cell populations in mosaic patients with FSHD suggests that mosaicism here results from D4Z4 rearrangements occurring during the first few zygotic cell divisions after fertilization. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 1 |
| Volume Number | 75 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2004-07-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Genes, Homeobox Mitosis Mosaicism Genetics Muscular Dystrophy, Facioscapulohumeral Repetitive Sequences, Nucleic Acid Telomere Alleles Chromosomes, Human, Pair 4 Gene Conversion Gene Rearrangement Pedigree Phenotype Time Factors Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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