Biomaterial Database

[Genomic imprinting]. 1998

G Tachdjian, and C Baumann

Service de Biologie du Dévelopment-Cytogénètique, Unité de Génétique médicale, Service de Néonatologie (CB), Hôpital Robert Debré, Paris.

AN EXCEPTION TO THE RULE: For certain genes, alleles are expressed differently depending on whether they originate from the maternal or paternal genome. This is called the parental imprinting. The parental imprinting plays an important role in development and a dysregulation can lead to various disease states. Loss of the parental imprinting or its alteration is implicated in certain genetic diseases and cancers. When the process is altered, two homologous chromosomes may come from the same parent, a situation termed uniparental disomy. GENETIC DISEASE IN MAN: Several genetic diseases in man are known to be related to the parental imprinting. Willi-Prader disease, Angelman disease and Beckwith-Wiedemann disease are the most extensively studied. RESULTS Some of the underlying mechanisms are known, but several points concerning the parental imprinting remain to be elucidated, particularly the precise nature of the molecular mechanisms and the identification of the genes controlling this genetic process.

UI	MeSH Term	Description	Entries
D008967	Molecular Biology	A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.	Biochemical Genetics,Biology, Molecular,Genetics, Biochemical,Genetics, Molecular,Molecular Genetics,Biochemical Genetic,Genetic, Biochemical,Genetic, Molecular,Molecular Genetic
D011218	Prader-Willi Syndrome	An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)	Labhart-Willi Syndrome,Royer Syndrome,Labhart-Willi-Prader-Fanconi Syndrome,Prader Labhart Willi Syndrome,Prader-Labhart-Willi Syndrome,Royer's Syndrome,Willi-Prader Syndrome,Labhart Willi Prader Fanconi Syndrome,Labhart Willi Syndrome,Prader Willi Syndrome,Royers Syndrome,Syndrome, Labhart-Willi,Syndrome, Labhart-Willi-Prader-Fanconi,Syndrome, Prader-Labhart-Willi,Syndrome, Prader-Willi,Syndrome, Royer,Syndrome, Royer's,Syndrome, Willi-Prader,Willi Prader Syndrome
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001506	Beckwith-Wiedemann Syndrome	A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.	Wiedemann Syndrome,Wiedemann-Beckwith Syndrome,Wiedemann-Beckwith Syndrome (WBS),EMG Syndrome,Exomphalos-Macroglossia-Gigantism Syndrome,Beckwith Wiedemann Syndrome,EMG Syndromes,Exomphalos Macroglossia Gigantism Syndrome,Exomphalos-Macroglossia-Gigantism Syndromes,Syndrome, Beckwith-Wiedemann,Syndrome, EMG,Syndrome, Exomphalos-Macroglossia-Gigantism,Syndrome, Wiedemann,Syndrome, Wiedemann-Beckwith,Syndrome, Wiedemann-Beckwith (WBS),Wiedemann Beckwith Syndrome,Wiedemann Beckwith Syndrome (WBS),Wiedemann Syndromes,Wiedemann-Beckwith Syndromes (WBS)
D017204	Angelman Syndrome	A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)	Happy Puppet Syndrome,Puppet Children,Children, Puppet,Syndrome, Angelman,Syndrome, Happy Puppet
D017385	Sequence Homology	The degree of similarity between sequences. Studies of AMINO ACID SEQUENCE HOMOLOGY and NUCLEIC ACID SEQUENCE HOMOLOGY provide useful information about the genetic relatedness of genes, gene products, and species.	Homologous Sequences,Homologs, Sequence,Sequence Homologs,Homolog, Sequence,Homologies, Sequence,Homologous Sequence,Homology, Sequence,Sequence Homolog,Sequence Homologies,Sequence, Homologous,Sequences, Homologous
D018392	Genomic Imprinting	The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)	Genetic Imprinting,Parental Imprinting,Imprinting, Genetic,Imprinting, Genomic,Imprinting, Parental
D019143	Evolution, Molecular	The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.	Molecular Evolution,Genetic Evolution,Evolution, Genetic
D030342	Genetic Diseases, Inborn	Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.	Hereditary Diseases,Genetic Diseases,Genetic Disorders,Hereditary Disease,Inborn Genetic Diseases,Single-Gene Defects,Defect, Single-Gene,Defects, Single-Gene,Disease, Genetic,Disease, Hereditary,Disease, Inborn Genetic,Diseases, Genetic,Diseases, Hereditary,Diseases, Inborn Genetic,Disorder, Genetic,Disorders, Genetic,Genetic Disease,Genetic Disease, Inborn,Genetic Disorder,Inborn Genetic Disease,Single Gene Defects,Single-Gene Defect