An Introduction to the Genetics of Normal and Defective Hearing a

@article{Martini1997AnIT,
  title={An Introduction to the Genetics of Normal and Defective Hearing a},
  author={Alessandro Martini and Manuela Mazzoli and William J. Kimberling},
  journal={Annals of the New York Academy of Sciences},
  year={1997},
  volume={830}
}
The recent rapid development of molecular biology techniques applied to the genetics of normal and defective hearing shed a new light on old questions regarding hearing and deafness. Genes are DNA sequences that determine characteristics, normally by specifying the sequence of aminoacids in a protein. The majority of genes is located in the chromosomes (human chromosomes have perhaps 80,000 pairs of genes). In addition there are 37 mithochondrial genes which are inherited only from the mother… Expand
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References

SHOWING 1-10 OF 78 REFERENCES
Genes and deafness.
TLDR
Progress has been made in finding genes for deafness and in using mouse mutants to elucidate the biological basis of the hearing deficit, with a focus on hereditary hearing impairment from childhood. Expand
A type VII myosin encoded by the mouse deafness gene shaker-1
TLDR
The shl gene encodes an unconventional myosin molecule of the type VII family, which is the first molecule to be identified that is known, by virtue of its mutations, to be involved in auditory transduction. Expand
Inherited hearing defects in mice.
  • K. Steel
  • Biology, Medicine
  • Annual review of genetics
  • 1995
TLDR
The distribution of candidate genes for deafness across the mouse genome is presented, together with a summary of the key features of the mutants involved, and the effects of mutations in orthologous genes involved in the auditory system in humans and mice are compared. Expand
Strategies for constructing a guinea pig organ of Corti cDNA library and its potential use.
  • E. Wilcox
  • Medicine
  • Otolaryngologic clinics of North America
  • 1992
TLDR
Cloning and describing genes involved with nonsyndromic hearing impairment will require the construction of a guinea pig cDNA library of the organ of Corti, and it is expected that such genes are involved in auditory transduction as well as in maintaining specific hair cell and supporting cell functions in the organ. Expand
Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.
TLDR
A combination of subtractive hybridization and differential screening strategies is used to identify genes that may function normally in hearing and, when mutated, result in deafness, as well as clones that are potential novel cochlear genes. Expand
cDNA cloning, tissue distribution, and chromosomal localization of Ocp2, a gene encoding a putative transcription-associated factor predominantly expressed in the auditory organs.
TLDR
The cloning of the OCP2 gene encoding OCP-II from a guinea pig organ-of-Corti cDNA library and Immunohistochemical staining of paraffin-embedded sections of the cochlea showed that OCP -II is localized abundantly in nonsensory cells in the organ of Corti. Expand
Defective myosin VIIA gene responsible for Usher syndrome type IB
TLDR
Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome. Expand
Cloning genes from an inner ear cDNA library.
TLDR
A rat inner ear complementary DNA library containing 1.9 x 10(6) recombinants was constructed and evaluated, showing a high degree of homology to several long interspersed DNA elements, neuron-specific nuclear transcripts thought to be involved in gene regulation. Expand
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
TLDR
A C→A transversion in codon 23 (corresponding to a proline →histidine substitution) in 17 of 148 unrelated patients and not in any of 102 unaffected individuals indicates that this mutation could be the cause of one form of autosomal dominant retinitis pigmentosa. Expand
Close linkage of the olfactory marker protein gene to the mouse deafness mutation shaker-1.
TLDR
Haplotype analysis indicates that the Omp gene lies proximal to sh-1, and this panel allows the identification of markers closely linked to thesh-1 mutation that may act as start points for a chromosomal walk to the gene. Expand
...
1
2
3
4
5
...