RNAs of the human chromosome 15q11-q13 imprinted region
نویسندگان
چکیده
منابع مشابه
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo interstitial deletion of chromosome 15q11-q13. Deletions and other recurrent rearrangements of this region involve four common 'hotspots' for breakage, termed breakpoints 1-4 (BP1-BP4). Construction of an approximately 4 Mb YAC contig of this region identified multiple sequence tagged sites (STSs) present at bot...
متن کاملEvaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.
Prader-Willi and Angelman syndromes are complex neurobehavioral contiguous gene syndromes whose expression depends on the unmasking of genomic imprinting for different genetic loci in human chromosome 15q11-q13. The homologous chromosomal region in the mouse genome has been fine-mapped by using interspecific (Mus spretus) crosses and overlapping, radiation-induced deletions to evaluate potentia...
متن کاملPrader-Willi syndrome and a deletion/duplication within the 15q11-q13 region.
Prader-Willi syndrome (PWS) is characterised by infantile hypotonia, feeding difficulties, hypogonadism, small hands and feet, mental deficiency, obesity in early childhood, a particular facial appearance, and a paternally derived 15q11-q13 deletion (approximately 4 million bp in size) in about 70% of subjects, maternal disomy 15 (both 15s from the mother) in 25% of subjects, or an imprinting m...
متن کاملScreening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
BACKGROUND Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to asses...
متن کاملChromosomal assignment of the human thrombin receptor gene: localization to region q13 of chromosome 5.
A functional thrombin receptor (TR) structurally related to other members of the seven-transmembrane receptor family has been isolated from diverse cellular types intimately involved in the regulation of the thrombotic response. This receptor recapitulates many of the previously identified sequelae of thrombin-mediated cell activation phenomenon, and requires proteolytic cleavage for downstream...
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ژورنال
عنوان ژورنال: Wiley Interdisciplinary Reviews: RNA
سال: 2012
ISSN: 1757-7004
DOI: 10.1002/wrna.1150