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Titolo:
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2
Autore:
Liang, Y; Wang, AH; Belyantseva, IA; Anderson, DW; Probst, FJ; Barber, TD; Miller, W; Touchman, JW; Jin, L; Sullivan, SL; Sellers, JR; Camper, SA; Lloyd, RV; Kachar, B; Friedman, TB; Fridell, RA;
Indirizzi:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA NIDCD Rockville MD USA20850 Mol Genet Lab, NIH, Rockville, MD 20850 USA Michigan State Univ, Grad Program Genet, E Lansing, MI 48824 USA Michigan State Univ E Lansing MI USA 48824 Genet, E Lansing, MI 48824 USA NIDCD, Lab Cellular Biol, NIH, Bethesda, MD 20892 USA NIDCD Bethesda MD USA 20892 ab Cellular Biol, NIH, Bethesda, MD 20892 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 Human Genet, Ann Arbor, MI 48109 USA Penn State Univ, Dept Comp Sci & Engn, University Pk, PA 16802 USA Penn State Univ University Pk PA USA 16802 n, University Pk, PA 16802 USA NIH, NIH Intramural Sequencing Ctr, Gaithersburg, MD 20877 USA NIH Gaithersburg MD USA 20877 Sequencing Ctr, Gaithersburg, MD 20877 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA Mayo Clin Rochester MN USA 55905 ab Med & Pathol, Rochester, MN 55905 USA NIDCD, Mol Biol Lab, NIH, Rockville, MD 20850 USA NIDCD Rockville MD USA 20850 , Mol Biol Lab, NIH, Rockville, MD 20850 USA NHLBI, Mol Cardiol Lab, NIH, Bethesda, MD 20892 USA NHLBI Bethesda MD USA20892 Mol Cardiol Lab, NIH, Bethesda, MD 20892 USA
Titolo Testata:
GENOMICS
fascicolo: 3, volume: 61, anno: 1999,
pagine: 243 - 258
SICI:
0888-7543(19991101)61:3<243:COTHAM>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME TYPE 1B; SMOOTH-MUSCLE; HAIR-CELLS; VIIA GENE; RECESSIVE DEAFNESS; SENSORY EPITHELIA; BINDING PROTEIN; SH3 DOMAINS; MEMBRANE; IDENTIFICATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
59
Recensione:
Indirizzi per estratti:
Indirizzo: Fridell, RA NIDCD, Mol Genet Lab, NIH, 5 Res Court, Rockville, MD 20850 USA NIDCD 5 Res Court Rockville MD USA 20850 ckville, MD 20850 USA
Citazione:
Y. Liang et al., "Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2", GENOMICS, 61(3), 1999, pp. 243-258

Abstract

Mutations in myosin XV are responsible for congenital profound deafness DFNB3 in humans and deafness and vestibular defects in shaker 2 mice. By combining direct cDNA analyses with a comparison of 95.2 kb of genomic DNA sequence from human chromosome 17p11.2 and 88.4 kb from the homologous region on mouse chromosome ii, we have determined the genomic and mRNA structures of the human (MY015) and mouse (Myo15) myosin XV genes. Our results indicatethat full-length myosin XV transcripts contain 66 exons, are >12 kb in length, and encode 365-kDa proteins that are unique among myosins in possessing very long similar to 1200-aa N-terminal extensions preceding their conserved motor domains. The tail regions of the myosin XV proteins contain two MS THC domains, two regions with similarity to the membrane attachment FERM domain, and a putative SH3 domain. Northern and dot blot analyses revealed that myosin XV is expressed in the pituitary gland in both humans and mice. Myosin XV transcripts were also observed by in situ hybridization within areas corresponding to the sensory epithelia of the cochlea and vestibular systems in the developing mouse inner ear. Immunostaining of adult mouse organ of Corti revealed that myosin XV protein is concentrated within the cuticular plate and stereocilia of cochlear sensory hair cells. These results indicate a likely role for myosin XV in the formation or maintenance of the unique actin-rich structures of inner ear sensory hair cells. (C) 1999 Academic Press.

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Documento generato il 02/12/20 alle ore 18:33:34