Perturbations of chromatin structure in human genetic disease: recent advances.
نویسندگان
چکیده
Gene expression studies in mammals and simpler eukaryotes have highlighted the central role that chromatin structure and modifications play in both the activation and repression of transcription. Aberrant chromatin structure can cause human genetic disease. Here we discuss recent progress in understanding the molecular mechanisms that underlie three human genetic diseases linked to perturbations of chromatin structure: ICF syndrome, facioscapulohumeral muscular dystrophy and a case of alpha-thalassaemia.
منابع مشابه
Roles of Chromatin insulators in gene regulation and diseases
With advances in genetic science, the dynamic structure of eukaryotic genome is considered as basis of gene expression regulation. Long-distance communication between regulatory elements and target promoters is critical and the mechanisms responsible for this connection are just starting to emerge. Chromatin insulators are key determinants of proper gene regulation and precise organization of c...
متن کاملHuman diseases with underlying defects in chromatin structure and modification.
Chromatin structure is important for regulating gene expression and for the proper condensation and segregation of chromosomes during cell division. Several human genetic diseases have been found to be due to mutations in genes producing proteins known or suspected to be involved in maintaining or modifying chromatin structure. Here we describe these 'chromatin diseases' and review what is know...
متن کاملEtiology and Evaluation of Sperm Chromatin Anomalies
Evidence suggests that human sperm chromatin anomalies adversely affect reproductive outcomes and infertile men possess substantially amount of sperm with chromatin anomalies than fertile men. Routine semen analysis evaluates parameters such as sperm motility and morphology, but does not examine the nuclear DNA integrity of spermatozoa. It has been suggested that altered nuclear chromatin struc...
متن کاملLong non-coding RNAs and their significance in human diseases
Protein-coding genes account for only a small fraction of the human genome and most of the genomic sequences are transcriptionally silent, but recent observations indicate significant functional elements, including non-coding protein transcripts in the human genome. Long non-coding RNAs (lncRNAs) have been defined as transcripts of >200 nucleotides without protein-coding capacity that perform t...
متن کاملPre-mRNA splicing: role of epigenetics and implications in disease.
Epigenetics refer to a variety of processes that have long-term effects on gene expression programs without changes in DNA sequence. Key players in epigenetic control are histone modifications and DNA methylation which, in concert with chromatin remodeling complexes, nuclear architecture and microRNAs, define the chromatin structure of a gene and its transcriptional activity. There is a growing...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Human molecular genetics
دوره 12 Spec No 2 شماره
صفحات -
تاریخ انتشار 2003