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E Wilcox

Publications and source records attributed to E Wilcox.

14 recordsLinked to original sources
PubMed2001

Some deafness-causing mutations can be silenced with the appropriate gene partner.

Inheritance of a deafness-causing genotype does not necessarily mean that a person will have profound hearing loss. The presence of a modifying gene can change the effect of the deafness genotype. As an example, mutations found commonly among the deaf are at times found among their normal hearing relatives. The implication is that there are genes or gene products whose interactions allow the normal physiological function of the inner ear despite a mutation that would normally disrupt the process. Deafness is not the first disorder in which modifiers can change the expected outcome, nor will it be the last, but it is very unusual for the outcome to be so dramatically changed.

Deafness↗
PubMed2000

Modifier genes of hereditary hearing loss.

Phenotypic variation between individuals with the same disease alleles may be attributable to the genotype at another locus, which is referred to as a modifier gene. Recent functional studies of modifier genes of hearing-loss loci have begun to refine our understanding of hearing processes and will guide the rational design of medical therapies for hearing loss.

Alleles↗
PubMed1998

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.

Base Sequence↗
PubMed1998

The largest subunit of mouse RNA polymerase II (RPB1) functionally substituted for its yeast counterpart in vivo.

The full-length mouse RNA polymerase II (pol II) largest subunit (RPB1) gene was used to replace 5070 bp of the yeast Saccharomyces cerevisiae RPB1 gene via homologous recombination and gene replacement in vivo. Transcription of the mouse RPB1 gene using the yeast promoter in the haploid state was confirmed by Northern analysis. This strain of yeast is viable, indicating that mouse RPB1 is able to interact functionally with the other yeast RNA pol II subunits in vivo.

Animals↗
PubMed1994

G protein Gi2 alpha in the cochlea: cloning and selective occurrence in receptor cells.

A cDNA library was made from the mouse cochlea and screened with a G protein-cDNA like molecule obtained from cochlear tissue by polymerase chain reaction. The nucleotide sequence of a clone, named cochlear Gi2 alpha, had 99.2% identity to mouse macrophage Gi2 alpha. Using an antibody which is selective for Gi2 alpha, expression of the cochlear Gi2 alpha was localized in outer and inner hair cells of the organ of Corti. Possible functional roles of this G protein in hair cells are discussed.

Amino Acid Sequence↗
PubMed1992

Selective amplification and partial sequencing of cDNAs encoding G protein alpha subunits from cochlear tissues.

An approach utilizing the polymerase chain reaction (PCR) was devised to clone members of a family of cDNAs encoding the alpha subunit of G proteins in the cochlea. RNA was extracted from the whole cochlea of the mouse and from the organ of Corti or the lateral wall of the cochlea microdissected from the guinea pig cochlea. The RNA was reverse-transcribed to cDNA which was selectively amplified by PCR using degenerate primers corresponding to two conserved regions of the G protein coding sequence. PCR products were cloned into a plasmid for sequencing. The following seven cDNA clones of particular interest were obtained: three clones putatively coding for part of the alpha-subunit of a stimulatory G protein (Gs), one clone putatively coding for part of the alpha-subunit of an inhibitory G protein (Gi) and three clones putatively coding for part of the alpha-subunit of a transducin (Gi)-like protein. Possible functions in the cochlea of putative G proteins with alpha-subunits partly encoded by these cDNA clones are briefly discussed and future studies are suggested.

Amino Acid Sequence↗
PubMed1992

Analysis of muscarinic receptor subtypes in the mouse cochlea by means of the polymerase chain reaction.

Total RNA was extracted with guanidine thiocyanate from the cochleas of 16-day-old CBAJ mice. The mRNA was purified from the total RNA using oligo-dT cellulose, and the mRNA was treated with DNase to degrade genomic DNA. After reverse transcription, resulting cDNA was amplified by polymerase chain reaction (PCR), using primers specific for the nucleotide sequences m1-m5, representing subtypes of muscarinic acetylcholine receptors. PCR products corresponding to subtypes m1, m3, and m5, but not to m2 and m4, were amplified. These results suggest that muscarinic acetylcholine receptors of these odd-numbered subtypes are expressed in the mammalian cochlea.

Animals↗
PubMed1984

Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library.

A human hepatoma cDNA library was constructed in lambda gt11, a bacteriophage vector that was designed to express cDNA-encoded antigenic determinants in Escherichia coli. The cDNA expression library contained approximately 8 X 10(6) recombinant phages with an average insert size of 780 bp. The feasibility of using a chromogenic immunodetection procedure to isolate cDNA clones was proved by isolating a human serum albumin (HSA) cDNA clone. An approximately 1.0-kb cDNA clone was then isolated by screening the library with rabbit anti-human alpha-L-fucosidase antibodies. The identity of the alpha-L-fucosidase cDNA clone was confirmed by DNA sequence analysis and a comparison of the predicted amino acid sequence to the amino acid sequences of human alpha-L-fucosidase tryptic peptides.

Bacteriophage lambda↗