DOI: 10.1093/genetics/148.4.1963. Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations

Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations

10.1093/genetics/148.4.1963

Crossref journal-article

Oxford University Press (OUP)

Genetics (286)

Abstract

Abstract We used an RT-PCR-based sequencing approach to identify the mutations responsible for 17 viable dilute alleles, a mouse-coat-color locus encoding unconventional myosin-VA. Ten of the mutations mapped to the MyoVA tail and are reported here. These mutations represent the first extensive collection of tail mutations reported for any unconventional mammalian myosin. They identify sequences important for tail function and identify domains potentially involved in cargo binding and/or proper folding of the MyoVA tail. Our results also provide support for the notion that different myosin tail isoforms produced by alternative splicing encode important cell-type-specific functions.

Bibliography

Huang, J.-D., Mermall, V., Strobel, M. C., Russell, L. B., Mooseker, M. S., Copeland, N. G., & Jenkins, N. A. (1998). Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations. Genetics, 148(4), 1963â1972.

Authors 7

Jian-Dong Huang (first)
Valerie Mermall (additional)
Marjorie C Strobel (additional)
Liane B Russell (additional)
Mark S Mooseker (additional)
Neal G Copeland (additional)
Nancy A Jenkins (additional)

References 50 Referenced 92

10.1038/382262a0 / Nature / Identification of the homologous beige and Chediak-Higashi syndrome genes by Barbosa (1996)
10.1101/gad.11.1.11 / Genes Dev. / Mouse models of human disease. Part II: Recent progress and future directions by Bedell (1997)
10.1016/S0092-8674(05)80080-7 / Cell / Brain myosin-V is a two-headed unconventional myosin with motor activity by Cheney (1993)
10.1016/S0021-9258(18)42770-6 / J. Biol. Chem. / In vitro splicing of cardiac troponin T precursors. Exon mutations disrupt splicing of the upstream intron by Cooper (1992)
10.1093/nar/17.19.7905 / Nucleic Acids Res. / Nucleotide substitutions within the cardiac troponin T alternative exon disrupt pre-mRNA alternative splicing by Cooper (1989)
10.1016/0006-8993(95)01560-4 / Brain Res. / Endoplasmic reticulum is missing in dendritic spines of purkinje cells of the ataxic mutant rat by Dekker-Ohno (1996)
10.1002/ajmg.1320030112 / Am. J. Med. Genet. / Neuro-ectodermal melanolysosomal disease: an autosomal recessive pigment mutation in man by Elejalde (1977)
10.1006/geno.1994.1088 / Genomics / Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene by Engle (1994)
10.1083/jcb.119.6.1541 / J. Cell. Biol. / Primary structure and cellular localization of chicken brainmyosin-V (p190), an unconventional myosin with calmodulinlight chains by Espreafico (1992)
10.1101/gad.5.2.211 / Genes Dev / The role of branchpoint and 3′-exon sequences in the control of balanced splicing of avian retrovirus RNA by Fu (1991)
10.1038/374062a0 / Nature / A type VII myosin encoded by the mouse deafness gene shaker-1 by Gibson (1995)
10.1242/jcs.107.4.1055 / J. Cell Sci. / Identification of MYO4, a second class V myosin gene in yeast by Haarer (1994)
10.1016/0092-8674(91)90391-B / Cell / Kinesin-related gene unc-104 is required for axonal transport of synaptic vesicles in C. elegans by Hall (1991)
{'key': '2022010309000321800_R14', 'first-page': '1604', 'article-title': 'Alternative processing of bovine growth hormone mRNA is influenced by downstream exon sequences', 'volume': '9', 'author': 'Hampson', 'year': '1989', 'journal-title': 'Mol. Cell. Biol.'} / Mol. Cell. Biol. / Alternative processing of bovine growth hormone mRNA is influenced by downstream exon sequences by Hampson (1989)
10.1007/BF02093723 / Eur. J. Pediatr. / Griscelli disease with cerebral involvement by Haraldsson (1991)
10.1074/jbc.271.28.16431 / J. Biol. Chem. / Vertebrate unconventional myosins by Hasson (1996)
10.1006/geno.1996.0488 / Genomics / Mapping of unconventional myosins in mouse and human by Hasson (1996)
10.1101/gad.2.12a.1627 / Genes Dev. / Alternative splicing of tropomyosin pre-mRNAs in vitro and in vivo by Helfman (1988)
10.1093/genetics/148.4.1951 / Genetics / Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations by Huang (1998)
10.1007/BF01955897 / Eur. J. Pediatr. / A kindred with Griscelli disease: spectrum of neurological involvement by Hurvitz (1993)
10.1016/S0092-8674(00)81047-8 / Cell / Mother cell-specific HO expression in budding yeast depends on the unconventional myosin myo4p and other cytoplasmic proteins by Jansen (1996)
10.1083/jcb.113.3.539 / J. Cell Biol. / The Saccharomyces cerevisiae MYO2 gene encodes an essential myosin for vectorial transport of vesicles by Johnston (1991)
{'key': '2022010309000321800_R23', 'first-page': '696', 'article-title': 'Control of retroviral RNA splicing through maintenance of suboptimal processing signals', 'volume': '10', 'author': 'Katz', 'year': '1990', 'journal-title': 'Mol. Cell. Biol.'} / Mol. Cell. Biol. / Control of retroviral RNA splicing through maintenance of suboptimal processing signals by Katz (1990)
10.1007/BF00210743 / Hum. Genet. / The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences by Krawczak (1992)
10.1093/hmg/6.1.111 / Human Molecular Genetics / Myosin VIIa gene—heterogeneity of the mutations responsible for usher syndrome type Ib by Levy (1997)
10.1083/jcb.125.4.825 / J. Cell Biol. / Immunofluorescence localization of the unconventional myosin, Myo2p, and the putative kinesin-related protein, Smy1p, to the same regions of polarized growth in Saccharomyces cerevisiae by Lillie (1994)
10.1038/ng0697-188 / Nature Genet. / Mutations in the myosin VIIA gene cause non-syndromic recessive deafness by Liu (1997)
10.1093/nar/15.19.7725 / Nucleic Acids Res. / A role for exon sequences in alternative splicing of the human fibronectin gene by Mardon (1987)
10.1093/genetics/145.2.435 / Genetics / Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice by Marker (1997)
10.1038/349709a0 / Nature / Novel myosin heavy chain encoded by murine dilute coat colour locus by Mercer (1991)
10.1101/gad.9.5.612 / Genes Dev. / Canoe encodes a novel protein containing a GLGF/DHR motif and functions with Notch and scabrous in common developmental pathways in Drosophila by Miyamoto (1995)
10.1159/000133937 / Cytogenet. Cell Genet. / Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21 by Moore (1995)
10.1146/annurev.cb.11.110195.003221 / Ann. Rev. Cell. Dev. Biol. / Unconventional myosins by Mooseker (1995)
10.1038/ng1196-307 / Nature Genet. / Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome by Nagle (1996)
10.1038/ng0797-289 / Nature Genet. / Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene by Pastural (1997)
10.1016/S0022-5193(05)80436-9 / J. Theor. Biol. / Human pre-mRNA splicing signals by Penotti (1991)
10.1016/S0968-0004(00)89040-4 / Trends Biochem. Sci. / AF-6/cno: neither a kinesin nor a myosin, but a bit of both by Ponting (1995)
{'key': '2022010309000321800_R38', 'first-page': '5624', 'article-title': 'Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation', 'volume': '53', 'author': 'Prasad', 'year': '1993', 'journal-title': 'Cancer Res.'} / Cancer Res. / Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation by Prasad (1993)
10.1073/pnas.93.25.14554 / Proc. Natl. Acad. Sci. USA / Cultured melanocytes from dilute mutant mice exhibit dendritic morphology and altered melanosome distribution by Provance (1996)
{'key': '2022010309000321800_R40', 'first-page': '53', 'article-title': 'Studies in mammalian radiation genetics', 'volume': '23', 'author': 'Russell', 'year': '1965', 'journal-title': 'Nucleonics'} / Nucleonics / Studies in mammalian radiation genetics by Russell (1965)
10.1073/pnas.79.11.3589 / Proc. Natl. Acad. Sci. USA / Dose-response curve for ethylnitrosourea-induced specific-locus mutations in mouse spermatogonia by Russell (1982)
10.1016/0014-5793(92)81123-4 / FEBS Lett. / cDNA encoding the chicken ortholog of the mouse dilute gene product. Sequence comparison reveals a myosin I subfamily with conserved C-terminal domains by Sanders (1992)
10.1002/j.1460-2075.1995.tb07227.x / EMBO J. / Retroviral sequences located within an intron of the dilute gene alter dilute expression in a tissue-specific manner by Seperack (1995)
10.1093/nar/20.6.1201 / Nucleic Acids Res. / Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene by Steingrimsdottir (1992)
10.1016/0304-3940(96)12967-0 / Neurosci. Lett. / The dilute-lethal (dl) gene attacks a Ca2+ store in the dendritic spine of Purkinje cells in mice by Takagishi (1996)
10.1101/gad.7.3.407 / Genes Dev. / The role of exon sequences in splice site selection by Watakabe (1993)
10.1038/374060a0 / Nature / Defective myosin VIIA gene responsible for Usher syndrome type 1B by Weil (1995)
{'key': '2022010309000321800_R48', 'first-page': '1074', 'article-title': 'Myosin VIIA mutation screening in 189 usher syndrome type 1 patients', 'volume': '59', 'author': 'Weston', 'year': '1996', 'journal-title': 'Amer. J. Hum. Genet.'} / Amer. J. Hum. Genet. / Myosin VIIA mutation screening in 189 usher syndrome type 1 patients by Weston (1996)
10.1242/jcs.110.7.847 / J. Cell Sci. / Myosin V associates with melanosomes in mouse melanocytes—evidence that myosin V is an organelle motor by Wu (1997)
10.1073/pnas.93.20.10826 / Proc. Natl. Acad. Sci. USA / Cloning and characterization of myr 6, an unconventional myosin of the dilute/myosin-V family by Zhao (1996)

Dates

Type	When
Created	4 years, 6 months ago (Feb. 12, 2021, 6:38 p.m.)
Deposited	3 years, 7 months ago (Jan. 3, 2022, 4:02 a.m.)
Indexed	1 month, 3 weeks ago (July 2, 2025, 2:48 p.m.)
Issued	27 years, 4 months ago (April 1, 1998)
Published	27 years, 4 months ago (April 1, 1998)
Published Online	27 years, 4 months ago (April 1, 1998)
Published Print	27 years, 4 months ago (April 1, 1998)

Funders 0

None

BibTeX

@article{Huang_1998, title={Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations}, volume={148}, ISSN={1943-2631}, url={http://dx.doi.org/10.1093/genetics/148.4.1963}, DOI={10.1093/genetics/148.4.1963}, number={4}, journal={Genetics}, publisher={Oxford University Press (OUP)}, author={Huang, Jian-Dong and Mermall, Valerie and Strobel, Marjorie C and Russell, Liane B and Mooseker, Mark S and Copeland, Neal G and Jenkins, Nancy A}, year={1998}, month=apr, pages={1963–1972} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        7,
        2
      ]
    ],
    "date-time": "2025-07-02T18:48:13Z",
    "timestamp": 1751482093551
  },
  "reference-count": 50,
  "publisher": "Oxford University Press (OUP)",
  "issue": "4",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            1998,
            4,
            1
          ]
        ],
        "date-time": "1998-04-01T00:00:00Z",
        "timestamp": 891388800000
      },
      "content-version": "vor",
      "delay-in-days": 0,
      "URL": "https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        1998,
        4,
        1
      ]
    ]
  },
  "abstract": "<jats:title>Abstract</jats:title>\n               <jats:p>We used an RT-PCR-based sequencing approach to identify the mutations responsible for 17 viable dilute alleles, a mouse-coat-color locus encoding unconventional myosin-VA. Ten of the mutations mapped to the MyoVA tail and are reported here. These mutations represent the first extensive collection of tail mutations reported for any unconventional mammalian myosin. They identify sequences important for tail function and identify domains potentially involved in cargo binding and/or proper folding of the MyoVA tail. Our results also provide support for the notion that different myosin tail isoforms produced by alternative splicing encode important cell-type-specific functions.</jats:p>",
  "DOI": "10.1093/genetics/148.4.1963",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2021,
        2,
        12
      ]
    ],
    "date-time": "2021-02-12T23:38:04Z",
    "timestamp": 1613173084000
  },
  "page": "1963-1972",
  "source": "Crossref",
  "is-referenced-by-count": 92,
  "title": "Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations",
  "prefix": "10.1093",
  "volume": "148",
  "author": [
    {
      "given": "Jian-Dong",
      "family": "Huang",
      "sequence": "first",
      "affiliation": [
        {
          "name": "ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702"
        }
      ]
    },
    {
      "given": "Valerie",
      "family": "Mermall",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Biology, Yale University, New Haven, Connecticut 06520"
        }
      ]
    },
    {
      "given": "Marjorie C",
      "family": "Strobel",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702"
        }
      ]
    },
    {
      "given": "Liane B",
      "family": "Russell",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831"
        }
      ]
    },
    {
      "given": "Mark S",
      "family": "Mooseker",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Biology, Yale University, New Haven, Connecticut 06520"
        },
        {
          "name": "Department of Pathology, Yale University, New Haven, Connecticut 06520"
        },
        {
          "name": "Department of Cell Biology, Yale University, New Haven, Connecticut 06520"
        }
      ]
    },
    {
      "given": "Neal G",
      "family": "Copeland",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702"
        }
      ]
    },
    {
      "given": "Nancy A",
      "family": "Jenkins",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702"
        }
      ]
    }
  ],
  "member": "286",
  "published-online": {
    "date-parts": [
      [
        1998,
        4,
        1
      ]
    ]
  },
  "reference": [
    {
      "key": "2022010309000321800_R1",
      "doi-asserted-by": "crossref",
      "first-page": "262",
      "DOI": "10.1038/382262a0",
      "article-title": "Identification of the homologous beige and Chediak-Higashi syndrome genes",
      "volume": "382",
      "author": "Barbosa",
      "year": "1996",
      "journal-title": "Nature"
    },
    {
      "key": "2022010309000321800_R2",
      "doi-asserted-by": "crossref",
      "first-page": "11",
      "DOI": "10.1101/gad.11.1.11",
      "article-title": "Mouse models of human disease. Part II: Recent progress and future directions",
      "volume": "11",
      "author": "Bedell",
      "year": "1997",
      "journal-title": "Genes Dev."
    },
    {
      "key": "2022010309000321800_R3",
      "doi-asserted-by": "crossref",
      "first-page": "13",
      "DOI": "10.1016/S0092-8674(05)80080-7",
      "article-title": "Brain myosin-V is a two-headed unconventional myosin with motor activity",
      "volume": "75",
      "author": "Cheney",
      "year": "1993",
      "journal-title": "Cell"
    },
    {
      "key": "2022010309000321800_R4",
      "doi-asserted-by": "crossref",
      "first-page": "5330",
      "DOI": "10.1016/S0021-9258(18)42770-6",
      "article-title": "In vitro splicing of cardiac troponin T precursors. Exon mutations disrupt splicing of the upstream intron",
      "volume": "267",
      "author": "Cooper",
      "year": "1992",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "2022010309000321800_R5",
      "doi-asserted-by": "crossref",
      "first-page": "7905",
      "DOI": "10.1093/nar/17.19.7905",
      "article-title": "Nucleotide substitutions within the cardiac troponin T alternative exon disrupt pre-mRNA alternative splicing",
      "volume": "17",
      "author": "Cooper",
      "year": "1989",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "2022010309000321800_R6",
      "doi-asserted-by": "crossref",
      "first-page": "226",
      "DOI": "10.1016/0006-8993(95)01560-4",
      "article-title": "Endoplasmic reticulum is missing in dendritic spines of purkinje cells of the ataxic mutant rat",
      "volume": "714",
      "author": "Dekker-Ohno",
      "year": "1996",
      "journal-title": "Brain Res."
    },
    {
      "key": "2022010309000321800_R7",
      "doi-asserted-by": "crossref",
      "first-page": "65",
      "DOI": "10.1002/ajmg.1320030112",
      "article-title": "Neuro-ectodermal melanolysosomal disease: an autosomal recessive pigment mutation in man",
      "volume": "3",
      "author": "Elejalde",
      "year": "1977",
      "journal-title": "Am. J. Med. Genet."
    },
    {
      "key": "2022010309000321800_R8",
      "doi-asserted-by": "crossref",
      "first-page": "407",
      "DOI": "10.1006/geno.1994.1088",
      "article-title": "Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene",
      "volume": "19",
      "author": "Engle",
      "year": "1994",
      "journal-title": "Genomics"
    },
    {
      "key": "2022010309000321800_R9",
      "doi-asserted-by": "crossref",
      "first-page": "1541",
      "DOI": "10.1083/jcb.119.6.1541",
      "article-title": "Primary structure and cellular localization of chicken brainmyosin-V (p190), an unconventional myosin with calmodulinlight chains",
      "volume": "119",
      "author": "Espreafico",
      "year": "1992",
      "journal-title": "J. Cell. Biol."
    },
    {
      "key": "2022010309000321800_R10",
      "doi-asserted-by": "crossref",
      "first-page": "211",
      "DOI": "10.1101/gad.5.2.211",
      "article-title": "The role of branchpoint and 3\u2032-exon sequences in the control of balanced splicing of avian retrovirus RNA",
      "volume": "5",
      "author": "Fu",
      "year": "1991",
      "journal-title": "Genes Dev"
    },
    {
      "key": "2022010309000321800_R11",
      "doi-asserted-by": "crossref",
      "first-page": "62",
      "DOI": "10.1038/374062a0",
      "article-title": "A type VII myosin encoded by the mouse deafness gene shaker-1",
      "volume": "374",
      "author": "Gibson",
      "year": "1995",
      "journal-title": "Nature"
    },
    {
      "key": "2022010309000321800_R12",
      "doi-asserted-by": "crossref",
      "first-page": "1055",
      "DOI": "10.1242/jcs.107.4.1055",
      "article-title": "Identification of MYO4, a second class V myosin gene in yeast",
      "volume": "107",
      "author": "Haarer",
      "year": "1994",
      "journal-title": "J. Cell Sci."
    },
    {
      "key": "2022010309000321800_R13",
      "doi-asserted-by": "crossref",
      "first-page": "837",
      "DOI": "10.1016/0092-8674(91)90391-B",
      "article-title": "Kinesin-related gene unc-104 is required for axonal transport of synaptic vesicles in C. elegans",
      "volume": "65",
      "author": "Hall",
      "year": "1991",
      "journal-title": "Cell"
    },
    {
      "key": "2022010309000321800_R14",
      "first-page": "1604",
      "article-title": "Alternative processing of bovine growth hormone mRNA is influenced by downstream exon sequences",
      "volume": "9",
      "author": "Hampson",
      "year": "1989",
      "journal-title": "Mol. Cell. Biol."
    },
    {
      "key": "2022010309000321800_R15",
      "doi-asserted-by": "crossref",
      "first-page": "419",
      "DOI": "10.1007/BF02093723",
      "article-title": "Griscelli disease with cerebral involvement",
      "volume": "150",
      "author": "Haraldsson",
      "year": "1991",
      "journal-title": "Eur. J. Pediatr."
    },
    {
      "key": "2022010309000321800_R16",
      "doi-asserted-by": "crossref",
      "first-page": "16431",
      "DOI": "10.1074/jbc.271.28.16431",
      "article-title": "Vertebrate unconventional myosins",
      "volume": "271",
      "author": "Hasson",
      "year": "1996",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "2022010309000321800_R17",
      "doi-asserted-by": "crossref",
      "first-page": "431",
      "DOI": "10.1006/geno.1996.0488",
      "article-title": "Mapping of unconventional myosins in mouse and human",
      "volume": "36",
      "author": "Hasson",
      "year": "1996",
      "journal-title": "Genomics"
    },
    {
      "key": "2022010309000321800_R18",
      "doi-asserted-by": "crossref",
      "first-page": "1627",
      "DOI": "10.1101/gad.2.12a.1627",
      "article-title": "Alternative splicing of tropomyosin pre-mRNAs in vitro and in vivo",
      "volume": "2",
      "author": "Helfman",
      "year": "1988",
      "journal-title": "Genes Dev."
    },
    {
      "key": "2022010309000321800_R19",
      "doi-asserted-by": "crossref",
      "first-page": "1951",
      "DOI": "10.1093/genetics/148.4.1951",
      "article-title": "Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations",
      "volume": "148",
      "author": "Huang",
      "year": "1998",
      "journal-title": "Genetics"
    },
    {
      "key": "2022010309000321800_R20",
      "doi-asserted-by": "crossref",
      "first-page": "402",
      "DOI": "10.1007/BF01955897",
      "article-title": "A kindred with Griscelli disease: spectrum of neurological involvement",
      "volume": "152",
      "author": "Hurvitz",
      "year": "1993",
      "journal-title": "Eur. J. Pediatr."
    },
    {
      "key": "2022010309000321800_R21",
      "doi-asserted-by": "crossref",
      "first-page": "687",
      "DOI": "10.1016/S0092-8674(00)81047-8",
      "article-title": "Mother cell-specific HO expression in budding yeast depends on the unconventional myosin myo4p and other cytoplasmic proteins",
      "volume": "84",
      "author": "Jansen",
      "year": "1996",
      "journal-title": "Cell"
    },
    {
      "key": "2022010309000321800_R22",
      "doi-asserted-by": "crossref",
      "first-page": "539",
      "DOI": "10.1083/jcb.113.3.539",
      "article-title": "The Saccharomyces cerevisiae MYO2 gene encodes an essential myosin for vectorial transport of vesicles",
      "volume": "113",
      "author": "Johnston",
      "year": "1991",
      "journal-title": "J. Cell Biol."
    },
    {
      "key": "2022010309000321800_R23",
      "first-page": "696",
      "article-title": "Control of retroviral RNA splicing through maintenance of suboptimal processing signals",
      "volume": "10",
      "author": "Katz",
      "year": "1990",
      "journal-title": "Mol. Cell. Biol."
    },
    {
      "key": "2022010309000321800_R24",
      "doi-asserted-by": "crossref",
      "first-page": "41",
      "DOI": "10.1007/BF00210743",
      "article-title": "The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences",
      "volume": "90",
      "author": "Krawczak",
      "year": "1992",
      "journal-title": "Hum. Genet."
    },
    {
      "key": "2022010309000321800_R25",
      "doi-asserted-by": "crossref",
      "first-page": "111",
      "DOI": "10.1093/hmg/6.1.111",
      "article-title": "Myosin VIIa gene\u2014heterogeneity of the mutations responsible for usher syndrome type Ib",
      "volume": "6",
      "author": "Levy",
      "year": "1997",
      "journal-title": "Human Molecular Genetics"
    },
    {
      "key": "2022010309000321800_R26",
      "doi-asserted-by": "crossref",
      "first-page": "825",
      "DOI": "10.1083/jcb.125.4.825",
      "article-title": "Immunofluorescence localization of the unconventional myosin, Myo2p, and the putative kinesin-related protein, Smy1p, to the same regions of polarized growth in Saccharomyces cerevisiae",
      "volume": "125",
      "author": "Lillie",
      "year": "1994",
      "journal-title": "J. Cell Biol."
    },
    {
      "key": "2022010309000321800_R27",
      "doi-asserted-by": "crossref",
      "first-page": "188",
      "DOI": "10.1038/ng0697-188",
      "article-title": "Mutations in the myosin VIIA gene cause non-syndromic recessive deafness",
      "volume": "16",
      "author": "Liu",
      "year": "1997",
      "journal-title": "Nature Genet."
    },
    {
      "key": "2022010309000321800_R28",
      "doi-asserted-by": "crossref",
      "first-page": "7725",
      "DOI": "10.1093/nar/15.19.7725",
      "article-title": "A role for exon sequences in alternative splicing of the human fibronectin gene",
      "volume": "15",
      "author": "Mardon",
      "year": "1987",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "2022010309000321800_R29",
      "doi-asserted-by": "crossref",
      "first-page": "435",
      "DOI": "10.1093/genetics/145.2.435",
      "article-title": "Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice",
      "volume": "145",
      "author": "Marker",
      "year": "1997",
      "journal-title": "Genetics"
    },
    {
      "key": "2022010309000321800_R30",
      "doi-asserted-by": "crossref",
      "first-page": "709",
      "DOI": "10.1038/349709a0",
      "article-title": "Novel myosin heavy chain encoded by murine dilute coat colour locus",
      "volume": "349",
      "author": "Mercer",
      "year": "1991",
      "journal-title": "Nature"
    },
    {
      "key": "2022010309000321800_R31",
      "doi-asserted-by": "crossref",
      "first-page": "612",
      "DOI": "10.1101/gad.9.5.612",
      "article-title": "Canoe encodes a novel protein containing a GLGF/DHR motif and functions with Notch and scabrous in common developmental pathways in Drosophila",
      "volume": "9",
      "author": "Miyamoto",
      "year": "1995",
      "journal-title": "Genes Dev."
    },
    {
      "key": "2022010309000321800_R32",
      "doi-asserted-by": "crossref",
      "first-page": "53",
      "DOI": "10.1159/000133937",
      "article-title": "Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21",
      "volume": "69",
      "author": "Moore",
      "year": "1995",
      "journal-title": "Cytogenet. Cell Genet."
    },
    {
      "key": "2022010309000321800_R33",
      "doi-asserted-by": "crossref",
      "first-page": "633",
      "DOI": "10.1146/annurev.cb.11.110195.003221",
      "article-title": "Unconventional myosins",
      "volume": "11",
      "author": "Mooseker",
      "year": "1995",
      "journal-title": "Ann. Rev. Cell. Dev. Biol."
    },
    {
      "key": "2022010309000321800_R34",
      "doi-asserted-by": "crossref",
      "first-page": "307",
      "DOI": "10.1038/ng1196-307",
      "article-title": "Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome",
      "volume": "14",
      "author": "Nagle",
      "year": "1996",
      "journal-title": "Nature Genet."
    },
    {
      "key": "2022010309000321800_R35",
      "doi-asserted-by": "crossref",
      "first-page": "289",
      "DOI": "10.1038/ng0797-289",
      "article-title": "Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene",
      "volume": "16",
      "author": "Pastural",
      "year": "1997",
      "journal-title": "Nature Genet."
    },
    {
      "key": "2022010309000321800_R36",
      "doi-asserted-by": "crossref",
      "first-page": "385",
      "DOI": "10.1016/S0022-5193(05)80436-9",
      "article-title": "Human pre-mRNA splicing signals",
      "volume": "150",
      "author": "Penotti",
      "year": "1991",
      "journal-title": "J. Theor. Biol."
    },
    {
      "key": "2022010309000321800_R37",
      "doi-asserted-by": "crossref",
      "first-page": "265",
      "DOI": "10.1016/S0968-0004(00)89040-4",
      "article-title": "AF-6/cno: neither a kinesin nor a myosin, but a bit of both",
      "volume": "20",
      "author": "Ponting",
      "year": "1995",
      "journal-title": "Trends Biochem. Sci."
    },
    {
      "key": "2022010309000321800_R38",
      "first-page": "5624",
      "article-title": "Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation",
      "volume": "53",
      "author": "Prasad",
      "year": "1993",
      "journal-title": "Cancer Res."
    },
    {
      "key": "2022010309000321800_R39",
      "doi-asserted-by": "crossref",
      "first-page": "14554",
      "DOI": "10.1073/pnas.93.25.14554",
      "article-title": "Cultured melanocytes from dilute mutant mice exhibit dendritic morphology and altered melanosome distribution",
      "volume": "93",
      "author": "Provance",
      "year": "1996",
      "journal-title": "Proc. Natl. Acad. Sci. USA"
    },
    {
      "key": "2022010309000321800_R40",
      "first-page": "53",
      "article-title": "Studies in mammalian radiation genetics",
      "volume": "23",
      "author": "Russell",
      "year": "1965",
      "journal-title": "Nucleonics"
    },
    {
      "key": "2022010309000321800_R41",
      "doi-asserted-by": "crossref",
      "first-page": "3589",
      "DOI": "10.1073/pnas.79.11.3589",
      "article-title": "Dose-response curve for ethylnitrosourea-induced specific-locus mutations in mouse spermatogonia",
      "volume": "79",
      "author": "Russell",
      "year": "1982",
      "journal-title": "Proc. Natl. Acad. Sci. USA"
    },
    {
      "key": "2022010309000321800_R42",
      "doi-asserted-by": "crossref",
      "first-page": "295",
      "DOI": "10.1016/0014-5793(92)81123-4",
      "article-title": "cDNA encoding the chicken ortholog of the mouse dilute gene product. Sequence comparison reveals a myosin I subfamily with conserved C-terminal domains",
      "volume": "311",
      "author": "Sanders",
      "year": "1992",
      "journal-title": "FEBS Lett."
    },
    {
      "key": "2022010309000321800_R43",
      "doi-asserted-by": "crossref",
      "first-page": "2326",
      "DOI": "10.1002/j.1460-2075.1995.tb07227.x",
      "article-title": "Retroviral sequences located within an intron of the dilute gene alter dilute expression in a tissue-specific manner",
      "volume": "14",
      "author": "Seperack",
      "year": "1995",
      "journal-title": "EMBO J."
    },
    {
      "key": "2022010309000321800_R44",
      "doi-asserted-by": "crossref",
      "first-page": "1201",
      "DOI": "10.1093/nar/20.6.1201",
      "article-title": "Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene",
      "volume": "20",
      "author": "Steingrimsdottir",
      "year": "1992",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "2022010309000321800_R45",
      "doi-asserted-by": "crossref",
      "first-page": "169",
      "DOI": "10.1016/0304-3940(96)12967-0",
      "article-title": "The dilute-lethal (dl) gene attacks a Ca2+ store in the dendritic spine of Purkinje cells in mice",
      "volume": "215",
      "author": "Takagishi",
      "year": "1996",
      "journal-title": "Neurosci. Lett."
    },
    {
      "key": "2022010309000321800_R46",
      "doi-asserted-by": "crossref",
      "first-page": "407",
      "DOI": "10.1101/gad.7.3.407",
      "article-title": "The role of exon sequences in splice site selection",
      "volume": "7",
      "author": "Watakabe",
      "year": "1993",
      "journal-title": "Genes Dev."
    },
    {
      "key": "2022010309000321800_R47",
      "doi-asserted-by": "crossref",
      "first-page": "60",
      "DOI": "10.1038/374060a0",
      "article-title": "Defective myosin VIIA gene responsible for Usher syndrome type 1B",
      "volume": "374",
      "author": "Weil",
      "year": "1995",
      "journal-title": "Nature"
    },
    {
      "key": "2022010309000321800_R48",
      "first-page": "1074",
      "article-title": "Myosin VIIA mutation screening in 189 usher syndrome type 1 patients",
      "volume": "59",
      "author": "Weston",
      "year": "1996",
      "journal-title": "Amer. J. Hum. Genet."
    },
    {
      "key": "2022010309000321800_R49",
      "doi-asserted-by": "crossref",
      "first-page": "847",
      "DOI": "10.1242/jcs.110.7.847",
      "article-title": "Myosin V associates with melanosomes in mouse melanocytes\u2014evidence that myosin V is an organelle motor",
      "volume": "110",
      "author": "Wu",
      "year": "1997",
      "journal-title": "J. Cell Sci."
    },
    {
      "key": "2022010309000321800_R50",
      "doi-asserted-by": "crossref",
      "first-page": "10826",
      "DOI": "10.1073/pnas.93.20.10826",
      "article-title": "Cloning and characterization of myr 6, an unconventional myosin of the dilute/myosin-V family",
      "volume": "93",
      "author": "Zhao",
      "year": "1996",
      "journal-title": "Proc. Natl. Acad. Sci. USA"
    }
  ],
  "container-title": "Genetics",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://academic.oup.com/genetics/article-pdf/148/4/1963/42006457/genetics1963.pdf",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "syndication"
    },
    {
      "URL": "https://academic.oup.com/genetics/article-pdf/148/4/1963/42006457/genetics1963.pdf",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2022,
        1,
        3
      ]
    ],
    "date-time": "2022-01-03T09:02:16Z",
    "timestamp": 1641200536000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://academic.oup.com/genetics/article/148/4/1963/6034548"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        1998,
        4,
        1
      ]
    ]
  },
  "references-count": 50,
  "journal-issue": {
    "issue": "4",
    "published-online": {
      "date-parts": [
        [
          1998,
          4,
          1
        ]
      ]
    },
    "published-print": {
      "date-parts": [
        [
          1998,
          4,
          1
        ]
      ]
    }
  },
  "URL": "http://dx.doi.org/10.1093/genetics/148.4.1963",
  "relation": {},
  "ISSN": [
    "1943-2631"
  ],
  "subject": [],
  "published-other": {
    "date-parts": [
      [
        1998,
        4,
        1
      ]
    ]
  },
  "published": {
    "date-parts": [
      [
        1998,
        4,
        1
      ]
    ]
  }
}