Original research article © American College of Medical Genetics and Genomics Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation Dorota Monies, PhD1,2, Sateesh Maddirevula, PhD1, Wesam Kurdi, MD3, Mohammed H. Alanazy,...
The terms 'dominant' or 'recessive' relate to the functional consequences of differing alleles in the (compound) heterozygous individual; the terms are irrelevant for homozygous individuals and inappropriate for X-linked disorders. Mutations affecting the same amino acid residue may be associated with ...
The terms 'dominant' or 'recessive' relate to the functional consequences of differing alleles in the (compound) heterozygous individual; the terms are irrelevant for homozygous individuals and inappropriate for X-linked disorders. Mutations affecting the same amino acid residue may be associated with ...
Is type 2 diabetes autosomal dominant or recessive? Do carriers of autosomal dominant genes express the trait? Are autosomal mutations inherited? Is haemophilia autosomal or X-linked? Is a sideways toe autosomal recessive? Are cataracts inherited as an autosomal dominant trait?
Sex chromosomes also have alleles with dominant and recessive expression. However, this situation is different because for males all X chromosome genes are expressed from the same single chromosome. Females have two X chromosomes, but the scenario is different from that of autosomes because of lyon...
- " ratios for recessive versus dominant phenotypes (second law). A further observation was that different characters segregated independently from one another (third law). The considerations of linkage between genes and of genetic distance would be discovered by others, at the beginning of the ...
In addition, there is increasing recognition that PTEN function is linked to its spatial distribution within cells.22 Busa et al23 recently described a pathogenic dominant p.Met134Ile alteration in PTEN that leads to a phenotype with macrocephaly and learning difficulties but the absence of early ...
Some dominant mutations are lethal when homozygous. Why do you think that natural selection fails to eliminate those alleles from the population? How can natural selection of good mutations overcome the numerous non-lethal bad ones that do...
These studies together with our data indicate that the phenotypic outcome of mutations in genes involved in brachydactyly is not only dependent on the homozygous versus heterozygous state but also on the location and nature of the mutation. The mutations in IHH, causing either BDA1 or ACFD, are...
Previous studies in Soay sheep indicate that inheritance of recessive self- colour pattern is consistent with the action of a single- locus agouti, at which the wild-type allele (A þ ) is dominant to self (Aa) (Clutton-Brock and Pemberton, 2004). We recently mapped this locus to a ...