Dystrophin and dystrophin-related proteins: a review of protein and RNA studies.
The analysis of dystrophin gene expression has led to the identification of multiple transcripts and varying isoforms. The data indicate that transcription of the dystrophin gene occurs from several promoters, which involves developmental and tissue-dependent regulation. These discoveries have complicated the interpretation of immunolocalization studies, although there is a strong correlation between the amount and size of dystrophin and the severity of the clinical phenotype. The importance of using protein-specific antibodies for dystrophin analysis has been underscored by the identification of a protein, designated utrophin, which exhibits significant sequence homology with dystrophin. This review addresses the recent studies of dystrophin and utrophin expression in an attempt to illustrate the transcriptional diversity of these large genes and the localization of their protein products within various tissues.
Love
D R
DR
Department of Pathology, University of Cambridge, U.K.
Byth
B C
BC
Tinsley
J M
JM
Blake
D J
DJ
Davies
K E
KE
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D016189:Dystrophin / Q000096:biosynthesis* / Q000235:genetics; D015870:Gene Expression; D005786:Gene Expression Regulation; D006801:Humans; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000096:biosynthesis* / Q000235:genetics; D011401:Promoter Regions, Genetic; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic
D016189:Dystrophin; D009419:Nerve Tissue Proteins