Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center

Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila.

Prader-Willi syndrome (PWS) and Angelman syndrome are neurogenetic disorders caused by the lack of a paternal or a maternal contribution from human chromosome 15q11-q13, respectively. Deletions in the transcription unit of the imprinted SNRPN gene have been found in patients who have PWS or Angelman syndrome because of a parental imprint switch failure in this chromosomal domain. It has been su...

Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects.

The introduction of intracytoplasmic sperm injection (ICSI) has raised concern about safety in terms of a possible increase in the incidence of major congenital malformations, chromosomal aberrations or developmental problems. The possible influence of genetic imprinting on an ICSI procedure has not yet been investigated. We therefore studied the DNA-methylation status at a defined region in ch...

Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.

New insights into biological factors that underlie autism may be gained by comparing autism to other neurodevelopmental disorders that have autistic features and relatively well-delineated genetic etiologies or neurobiological findings. This review moves beyond global diagnoses of autism and instead uses an endophenotypic approach to compare specific clusters of autistic symptomatology to featu...

Angelman's syndrome, abnormality of 15q11-13, and imprinting.

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.

Chromosome 15q11-q13 is one of the most variable regions of the human genome, with numerous clinical rearrangements involving a dosage imbalance. Multiple clusters of segmental duplications are found in the pericentromeric region of 15q and at the breakpoints of proximal 15q rearrangements. Using sequence maps and previous global analyses of segmental duplications in the human genome, a targete...