MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

被引：179

作者：

Melchionda, S

Ahituv, N

Bisceglia, L

Sobe, T

Glaser, F

Rabionet, R

Arbones, ML

Notarangelo, A

Di Iorio, E

Carella, M

Zelante, L

Estivill, X

Avraham, KB

Gasparini, P ^{[1
]}

机构：

[1] IRCCS Hosp CSS, Med Genet Serv, I-71013 San Giovanni Rotondo, Italy

[2] Tel Aviv Univ, Sackler Sch Med, Dept Human Genet & Mol Med, IL-69978 Tel Aviv, Israel

[3] Tel Aviv Univ, George S Wise Fac Life Sci, Dept Biochem, IL-69978 Tel Aviv, Israel

[4] Hosp Duren & Reynals, Inst Recerca Oncol, Med & Mol Genet Ctr, Barcelona, Spain

[5] Tigem, Naples, Italy

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 03期

关键词：

D O I：

10.1086/323156

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell's waltzer (sv) mouse. The corresponding human gene, MYO6, is located on chromosome 6q13. We describe the mapping of a new deafness locus, DFNA22, on chromosome 6q13 in a family affected by a nonsyndromic dominant form of deafness (NSAD), and the subsequent identification of a missense mutation in the MYO6 gene in all members of the family with hearing loss.

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页码：635 / 640

页数：6

相关论文

共 21 条

[1] Genomic structure of the human unconventional myosin VI gene [J].

Ahituv, N ;

Sobe, T ;

Robertson, NG ;

Morton, CC ;

Taggart, RT ;

Avraham, KB .

GENE, 2000, 261 (02) :269-275

[2] ConSurf: An algorithmic tool for the identification of functional regions in proteins by surface mapping of phylogenetic information [J].

Armon, A ;

Graur, D ;

Ben-Tal, N .

JOURNAL OF MOLECULAR BIOLOGY, 2001, 307 (01) :447-463

[3] Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice [J].

Avraham, KB ;

Hasson, T ;

Sobe, T ;

Balsara, B ;

Testa, JR ;

Skvorak, AB ;

Morton, CC ;

Copeland, NG ;

Jenkins, NA .

HUMAN MOLECULAR GENETICS, 1997, 6 (08) :1225-1231

[4] THE MOUSE SNELLS WALTZER DEAFNESS GENE ENCODES AN UNCONVENTIONAL MYOSIN REQUIRED FOR STRUCTURAL INTEGRITY OF INNER-EAR HAIR-CELLS [J].

AVRAHAM, KB ;

HASSON, T ;

STEEL, KP ;

KINGSLEY, DM ;

RUSSELL, LB ;

MOOSEKER, MS ;

COPELAND, NG ;

JENKINS, NA .

NATURE GENETICS, 1995, 11 (04) :369-375

[5] Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families [J].

Coucke, PJ ;

Van Hauwe, P ;

Kelley, PM ;

Kunst, H ;

Schatteman, I ;

Van Velzen, D ;

Meyers, J ;

Ensink, RJ ;

Verstreken, M ;

Declau, F ;

Marres, H ;

Kastury, K ;

Bhasin, S ;

McGuirt, WT ;

Smith, RJH ;

Cremers, CWRJ ;

Van de Heyning, P ;

Willems, PJ ;

Smith, SD ;

Van Camp, G .

HUMAN MOLECULAR GENETICS, 1999, 8 (07) :1321-1328

[6] Myosin VI: Roles for a minus end-directed actin motor in cells [J].

Cramer, LP .

JOURNAL OF CELL BIOLOGY, 2000, 150 (06) :F121-F126

[7] A TYPE-VII MYOSIN ENCODED BY THE MOUSE DEAFNESS GENE SHAKER-1 [J].

GIBSON, F ;

WALSH, J ;

MBURU, P ;

VARELA, A ;

BROWN, KA ;

ANTONIO, M ;

BEISEL, KW ;

STEEL, KP ;

BROWN, SDM .

NATURE, 1995, 374 (6517) :62-64

[8] Unconventional myosins in inner-ear sensory epithelia [J].

Hasson, T ;

Gillespie, PG ;

Garcia, JA ;

MacDonald, RB ;

Zhao, YD ;

Yee, AG ;

Mooseker, MS ;

Corey, DP .

JOURNAL OF CELL BIOLOGY, 1997, 137 (06) :1287-1307

[9] Class VI unconventional myosin is required for spermatogenesis in Drosophila [J].

Hicks, JL ;

Deng, WM ;

Rogat, AD ;

Miller, KG ;

Bownes, M .

MOLECULAR BIOLOGY OF THE CELL, 1999, 10 (12) :4341-4353

[10] Myosin VI is required for asymmetric segregation of cellular components during C-elegans spermatogenesis [J].

Kelleher, JF ;

Mandell, MA ;

Moulder, G ;

Hill, KL ;

L'Hernault, SW ;

Barstead, R ;

Titus, MA .

CURRENT BIOLOGY, 2000, 10 (23) :1489-1496