منابع مشابه
Characterization of TRP-1 mRNA levels in dominant and recessive mutations at the mouse brown (b) locus.
The mouse brown locus encodes a putative membrane-bound metalloenzyme, tyrosinase-related protein-1 (TRP-1). We have examined the effect on mRNA expression of the locus of a number of mutant alleles. The common null mutant allele, brown, produces wild-type levels of TRP-1 mRNA, which is nonfunctional. Another recessive allele, cordovan-Harwell, has an intermediate, dark-brown phenotype and prod...
متن کاملPathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli. This disorder is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) alpha1 subunit (GLRA1) and the presynaptic glycine transporter GlyT2 (SLC6A5). In this study, syst...
متن کاملCoincidence of ESAD and ESS in dominant-recessive hereditary systems.
The paper deals with the following question: when do the phenotypic evolutionarily stable state (ESS) and the evolutionarily stable allele distribution (ESAD) coincide? It is supposed that for a sexual population, in dominant-recessive inheritance system, n allele at one autosomal locus determine n possible pure individual phenotypes and each pure phenotype is obtained as the phenotype of a hom...
متن کاملMutation in KCNQ1 that has both recessive and dominant characteristics.
Inherited forms of long QT syndrome (LQTS) are characterised by an extended QT interval and clinical manifestations that include syncope and sudden death. The known genes in which mutations give rise to LQTS all produce components of cardiac ion channels. The two genes mutated in the majority of cases are KCNQ1 or HERG. The proteins produced from these genes are subunits which form tetrameric t...
متن کاملAutosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site muta...
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ژورنال
عنوان ژورنال: Genetics Selection Evolution
سال: 1996
ISSN: 0999-193X
DOI: 10.1051/gse:19960107