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Titolo:
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells
Autore:
Anderson, DW; Probst, FJ; Belyantseva, IA; Fridell, RA; Beyer, L; Martin, DM; Wu, D; Kachar, B; Friedman, TB; Raphael, Y; Camper, SA;
Indirizzi:
Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Otolaryngol, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 Otolaryngol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Pediat & Communicable Dis, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 nicable Dis, Ann Arbor, MI 48109 USA NIDCD, Lab Cellular Biol, Bethesda, MD 20892 USA NIDCD Bethesda MD USA 20892 CD, Lab Cellular Biol, Bethesda, MD 20892 USA NIDCD, Mol Genet Lab, Rockville, MD 20850 USA NIDCD Rockville MD USA 20850 IDCD, Mol Genet Lab, Rockville, MD 20850 USA NIDCD, Cell Biol Lab, Rockville, MD 20850 USA NIDCD Rockville MD USA 20850 IDCD, Cell Biol Lab, Rockville, MD 20850 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 12, volume: 9, anno: 2000,
pagine: 1729 - 1738
SICI:
0964-6906(20000722)9:12<1729:TMATRO>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
UNCONVENTIONAL MYOSIN; DEAFNESS DFNB3; INNER-EAR; PROTEINS; DOMAIN; GENE; SHAKER-2; HOMOLOGY; MEMBRANE; ENCODES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Camper, SA Univ Michigan, Dept Human Genet, 4301 MSRB 3,1150 W Med Ctr Dr,Ann Arbor,MI 48109 USA Univ Michigan 4301 MSRB 3,1150 W Med Ctr Dr Ann Arbor MI USA 48109
Citazione:
D.W. Anderson et al., "The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells", HUM MOL GEN, 9(12), 2000, pp. 1729-1738

Abstract

Recessive mutations in myosin 15, a class XV unconventional myosin, cause profound congenital deafness in humans and both deafness and vestibular dysfunction in mice homozygous for the shaker 2 and shaker 2(J) alleles, The shaker 2 allele is a previously described missense mutation of a highly conserved residue in the motor domain of myosin XV, The shaker 2(J) lesion, in contrast, is a 14.7 kb deletion that removes the last six exons from the 3'-terminus of the Myo 15 transcript, These exons encode a FERM (F, ezrin, radixin and moesin) domain that may interact with integral membrane proteins,Despite the deletion of six exons, Myo15 mRNA transcripts and protein are present in the post-natal day 1 shaker 2(J) inner ear, which suggests that the FERM domain is critical for the development of normal hearing and balance, Myo15 transcripts are first detectable at embryonic day 13.5 in wild-type mice, Myo15 transcripts in the mouse inner ear are restricted to the sensory epithelium of the developing cristae ampularis, macula utriculi and macula sacculi of the vestibular system as well as to the developing organ ofCorti, Both the shaker 2 and shaker 2(J) alleles result in abnormally short hair cell stereocilia in the cochlear and vestibular systems, This suggests that Myo15 may be important for both the structure and function of thesesensory epithelia.

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Documento generato il 02/12/20 alle ore 18:31:46