Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric Kpn (ital) I repeat units implicated in facioscapulohumeral muscular dystrophy

Article Abstract:

It may be that partial translocations have a molecular role with facioscapulohumeral muscular dystrophy (FSHD). Sequence analysis of the p13D-11 probe and of the adjacent KpnI tandem-repeat unit have been carried out. The latter came from a 10qter cosmid clone. Comparing results for the 4q35 region with those from other studies, it can be seen that the sequence homology range is 98%-100% and the only difference that is useful for differentiation of the 10qter from the 4q35 alleles is the presence of another Bln (ital) I site inside the 10qter Kpn (ital) I repeat unit. Physical mapping and in situ hybridization experiments have shown that a duplicated locus with a structural organization like that of the 4q35 locus implicated in FSHD is in the subtelomeric portion of 10q.

Italy, Usage, Chromosome mapping, Genetic disorders

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CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1

Article Abstract:

Study is presented in which an elongated polymorphic CGG repeat is identified as the molecular basis of FRA12A. This repeat is found in the 5' untranslated region of the gene DIP2B, which encodes a protein with a DMAP1-binding domain, which suggests a role in DNA methylation machinery.

Netherlands, Physiological aspects, Methylation

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Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in Facioscapulohumeral muscular dystrophy

Article Abstract:

The article describes about the evolution of the DNA tandem array D4Z4 and highlights the possibility that it plays a more direct role in the Facioscapulohumeral muscular dystrophy (FSHD) disease mechanism.

Evolutionary biology

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