Genetic and Physical Delineation of the Region of the Mouse Deafness Mutationshaker-2

Wakabayashi, Yuichi; Kikkawa, Yoshiaki; Matsumoto, Yasuo; Shinbo, Toshimitsu; Kosugi, Shin‐ichi; Chou, Daizen; Furuya, Maiko; Jishage, Kou-ichi; Noda, Tetsuo; Yonekawa, Hiromichi; Kominami, Ryo

doi:10.1006/bbrc.1997.6595

Cited by 10 publications

(5 citation statements)

References 16 publications

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“…Genotyping was done with polymerase chain reaction (PCR) as described (6,11). BAC clones were isolated by PCR screening of a library that were purchased from Research Genetics, Inc.…”

Section: Methodsmentioning

confidence: 99%

“…BAC clones were isolated by PCR screening of a library that were purchased from Research Genetics, Inc. The size of clones was determined by pulsedfield gel electrophoresis using a Sheff mapper apparatus (BioRad, Inc) (11). Each end of BAC inserts was directly sequenced and PCR primers for the ends were synthesized according to sequences obtained.…”

Section: Methodsmentioning

confidence: 99%

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A Point Mutation in a Cadherin Gene, Cdh23, Causes Deafness in a Novel Mutant, Waltzer Mouse Niigata

Wada

Wakabayashi

Takahashi

et al. 2001

Biochemical and Biophysical Research Communications

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“…Genotyping was done with polymerase chain reaction (PCR) as described (6,11). BAC clones were isolated by PCR screening of a library that were purchased from Research Genetics, Inc.…”

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

A Point Mutation in a Cadherin Gene, Cdh23, Causes Deafness in a Novel Mutant, Waltzer Mouse Niigata

Wada

Wakabayashi

Takahashi

et al. 2001

Biochemical and Biophysical Research Communications

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“…5). A similar cross has been constructed by Wakabayashi et al (1997). However, many of the markers in the critical region of their cross are anonymous, and none of the four genes that we report herein were present on their map.…”

Section: Genetic Mapping Of Sh2mentioning

confidence: 95%

“…LLGL, the human homologue of the Drosophila melanogaster lethal(2) giant larva, is thought to be involved in brain development (Campbell et al 1997) and is in the DFNB3 interval. However, a mouse knockout of Llglh complemented sh2 (Wakabayashi et al 1997). If sh2 is the murine orthologue of DFNB3, then LLGL is not DFNB3.…”

Section: Physical Map Of the 17p112 Regionmentioning

confidence: 98%

“…Aldh3, Aldh4,D11Mit316,D11Mit317,Kcnj12,sh2, and Wnt3a vt were all mapped in our cross. The relative positions of Anx6, Glra1, Grai1, Pmp22 Tr , Myhs, and Myo7b-rs1 are placed unambiguously, on the basis of previous mapping (Watkins-Chow et al 1997;Wakabayashi et al 1997). The position of Ocp2-rs2 is relative to Anx6, Glra1, and Gria1 and has not been refined (Chen et al 1995a;Liang et al 1997).…”

Section: Figurementioning

confidence: 99%

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Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2

Liang

Wang

Probst

et al. 1998

The American Journal of Human Genetics

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The nonsyndromic congenital recessive deafness gene, DFNB3, first identified in Bengkala, Bali, was mapped to a approximately 12-cM interval on chromosome 17. New short tandem repeats (STRs) and additional DNA samples were used to identify recombinants that constrain the DFNB3 interval to less, similar6 cM on 17p11.2. Affected individuals from Bengkala and affected members of a family with hereditary deafness who were from Bila, a village neighboring Bengkala, were homozygous for the same alleles for six adjacent STRs in the DFNB3 region and were heterozygous for other distal markers, thus limiting DFNB3 to an approximately 3-cM interval. Nonsyndromic deafness segregating in two unrelated consanguineous Indian families, M21 and I-1924, were also linked to the DFNB3 region. Haplotype analysis indicates that the DFNB3 mutations in the three pedigrees most likely arose independently and suggests that DFNB3 makes a significant contribution to hereditary deafness worldwide. On the basis of conserved synteny, mouse deafness mutations shaker-2 (sh2) and sh2J are proposed as models of DFNB3. Genetic mapping has refined sh2 to a 0.6-cM interval of chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting that sh2 is the homologue of DFNB3.

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A Novel Type of Myosin Encoded by the Mouse Deafness Geneshaker-2

Wakabayashi

Takahashi

Kikkawa

et al. 1998

Biochemical and Biophysical Research Communications

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Genetic and Physical Delineation of the Region of the Mouse Deafness Mutationshaker-2

Cited by 10 publications

References 16 publications

A Point Mutation in a Cadherin Gene, Cdh23, Causes Deafness in a Novel Mutant, Waltzer Mouse Niigata

A Point Mutation in a Cadherin Gene, Cdh23, Causes Deafness in a Novel Mutant, Waltzer Mouse Niigata

Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2

A Novel Type of Myosin Encoded by the Mouse Deafness Geneshaker-2

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