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Titolo:
PARENTS DO MATTER - GENOMIC IMPRINTING AND PARENTAL SEX EFFECTS IN NEUROLOGICAL DISORDERS
Autore:
CHATKUPT S; ANTONOWICZ M; JOHNSON WG;
Indirizzi:
UNIV MED & DENT NEW JERSEY,NEW JERSEY MED SCH,DEPT NEUROSCI,185 S ORANGE AVE,MSB-H-506 NEWARK NJ 07103 UNIV MED & DENT NEW JERSEY,ROBERT WOOD JOHNSON MED SCH,DEPT NEUROL,DIV NEUROGENET NEWARK NJ 07103
Titolo Testata:
Journal of the neurological sciences
fascicolo: 1, volume: 130, anno: 1995,
pagine: 1 - 10
SICI:
0022-510X(1995)130:1<1:PDM-GI>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGILE-X-SYNDROME; PRADER-WILLI SYNDROME; CONGENITAL MYOTONIC-DYSTROPHY; HEREDITARY GLOMUS TUMORS; SPINAL MUSCULAR-ATROPHY; SPINOCEREBELLAR ATAXIA; UNIPARENTAL DISOMY; REPEAT LENGTH; ANGELMANS SYNDROME; DNA METHYLATION;
Keywords:
GENOME; GENETIC; IMPRINTING; PARENTAL SEX EFFECTS;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
96
Recensione:
Indirizzi per estratti:
Citazione:
S. Chatkupt et al., "PARENTS DO MATTER - GENOMIC IMPRINTING AND PARENTAL SEX EFFECTS IN NEUROLOGICAL DISORDERS", Journal of the neurological sciences, 130(1), 1995, pp. 1-10

Abstract

Genomic imprinting is a recently recognized phenomenon of differential expression of genetic material depending upon whether the genetic material has come from the male or female parent. This process of differential phenotypic expression involves mammalian development both in the normal and abnormal situations, resulting in parental sex effects. However, some parental sex effects may be due to other mechanisms such as mitochondrial inheritance. In the following article, evidence for genomic imprinting in experimental animals and in diseases are summarized. Relevant human neurological disorders manifesting parental sex effects discussed here include myotonic dystrophy, Huntington's disease, fragile X syndrome, spinocerebellar ataxia type 1, and neurofibromatosis type 1 and 2. A possible mechanism of imprinting involves the processes of methylation imprint and replication imprint. The knowledge of imprinting is helpful in clinical practice particularly in the areas of genetic counseling, prenatal diagnosis, and possible future gene therapy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/07/20 alle ore 21:03:11