DOI: 10.1101/gad.1.4.376. Deletion and duplication of DNA sequences is associated with the embryonic lethal phenotype of the t9 complementation group of the mouse t complex.

Deletion and duplication of DNA sequences is associated with the embryonic lethal phenotype of the t9 complementation group of the mouse t complex.

10.1101/gad.1.4.376

Crossref journal-article

Cold Spring Harbor Laboratory

Genes & Development (246)

Abstract

We have analyzed the genomic structure of three mouse t haplotypes of the t9 complementation group. Each of these t haplotypes, tw18, t4, and tks1, is known to have resulted from a rare recombination event between a complete t haplotype and a wild-type chromosome. Using molecular probes that identify sequences in the distal portion of the t complex, we have shown that each of these t haplotypes contains a similar (perhaps identical) deletion of one group of t complex sequences, and duplication of another group. These data suggest that the recombination events that produced these three t haplotypes involved similar unequal crossovers within the distal inversion. The deletion and duplication of genetic material associated with all members of the t9 complementation group tested provides a molecular explanation for the recessive lethal mutation associated with these t haplotypes.

Bibliography

BÃºcan, M., Herrmann, B. G., Frischauf, A. M., Bautch, V. L., Bode, V., Silver, L. M., Martin, G. R., & Lehrach, H. (1987). Deletion and duplication of DNA sequences is associated with the embryonic lethal phenotype of the t9 complementation group of the mouse t complex. Genes & Development, 1(4), 376â385.

Authors 8

M Búcan (first)
B G Herrmann (additional)
A M Frischauf (additional)
V L Bautch (additional)
V Bode (additional)
L M Silver (additional)
G R Martin (additional)
H Lehrach (additional)

References 42 Referenced 36

{'key': '2021111319415757000_1.4.376.1', 'first-page': '2076', 'article-title': 'Structure of amplified DNA in different syrian hamster cell lines resistant to N-(phosphonacetyl)-L-aspartate.', 'volume': '3', 'year': '1983', 'journal-title': 'Mol Cell Biol'} / Mol Cell Biol / Structure of amplified DNA in different syrian hamster cell lines resistant to N-(phosphonacetyl)-L-aspartate. (1983)
10.1016/0092-8674(84)90463-X
10.1016/0092-8674(82)90200-8
10.1016/0092-8674(82)90201-X
10.1002/jez.1401430206
10.1016/0092-8674(75)90033-1
10.1093/genetics/83.2.361 / Genetics / Genetic changes in mutations at the T/t locus in the mouse. (1976)
10.1002/j.1460-2075.1986.tb04585.x / EMBO J. / Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. (1986)
10.1073/pnas.81.7.1991
10.1093/genetics/38.3.261 / Genetics / Genetic analysis of seven newly discovered mutant alleles at locus in the house mouse. (1953)
10.1093/genetics/47.3.285 / Genetics / Mutation and recombination in the vicinity of a complex gene. (1962)
10.1016/0003-2697(83)90418-9
10.1007/BF01576983
10.1007/BF00364499
10.1007/BF00387855
10.1016/0168-9525(85)90040-X
10.1016/0092-8674(86)90468-X
10.1016/0092-8674(87)90078-X
10.1126/science.7156978
10.1017/S0016672300026239
10.1038/hdy.1960.28 / Heredity / Effect of X-rays on the mutation of t-alleles in the mouse. (1960)
10.1016/0092-8674(84)90393-3
10.1017/S0016672300018280 / Genet. Res. / Complementation reactions of a lethal mouse t-haplotype believed to include a deletion. (1979)
Magnuson, T. 1983. Genetic abnormalities and early mammalian development. In Development in mammals, vol. 5 (ed. M. Johnson), pp. 209–249. North-Holland Press, Amsterdam.
10.1093/genetics/114.3.993 / Genetics / Genetic analysis of a mouse t complex locus that is homologous to a kidney cDNA clone. (1986)
10.1073/pnas.78.12.7634
Martin, G.R., Fox, H.S. Silver, L.M. and Joyner. A.L. 1987. Establishment of embryonic stem cell lines from pre-implantation mouse embryos homozygous for lethal mutations in the t-complex. Dev. Biol. (in press). (10.1016/0012-1606(87)90134-5)
10.1016/0012-1606(67)90064-4
10.1007/BF00364209
Molecular complexity of Qa-2 antigens demonstrated by two-dimensional gel electrophoresis. J. Immunogenetics and (in press).. Robinson, P.J., . Lefkovits, I. . Fischer-Lindahl. K. .
10.1016/0092-8674(84)90358-1
10.1093/genetics/113.3.723 / Genetics / Nonhomologous pairing in mice heterozygous for a t haplotype can produce recombinant chromosomes with duplications and deletions. (1986)
Sherman, M. and L. Wudl. 1977. T-complex mutations and their effects. In Concepts in mammalian embryogenesis (ed. M. Sherman), pp. 136–234. MIT Press, Cambridge, Massachusetts.
10.1038/306380a0
10.1016/0092-8674(84)90464-1
10.1093/oxfordjournals.jhered.a110140 / J. Hered. / Confidence limits for estimates of gene linkage based on analysis of recombinant inbred strains. (1985)
10.1146/annurev.ge.19.120185.001143 / Annu. Rev. Genet. / Mouse t haplotypes. (1985)
10.1073/pnas.77.10.6077
Silver, L.M. and Remis. D. 1987. Five of the nine genetically defined regions of mouse t-haplotypes are involved in transmission ratio distortion. Genet Res. (in press). (10.1017/S0016672300026720)
10.1093/genetics/110.4.723 / Genetics / The locus encoding α A-crystallin is closely linked to H-2K on mouse chromosome 17. (1985)
Taylor, B.A. 1978. Recombinant inbred strains: Use in gene mapping. In Origins of inbred mice, (ed. Herbert C. Morse III), pp. 432–438. Academic Press, New York. (10.1016/B978-0-12-507850-4.50032-9)
10.1073/pnas.80.11.3425

Dates

Type	When
Created	18 years, 2 months ago (June 5, 2007, 5:15 p.m.)
Deposited	3 years, 9 months ago (Nov. 13, 2021, 10:42 p.m.)
Indexed	1 month, 2 weeks ago (July 12, 2025, 6:52 p.m.)
Issued	38 years, 3 months ago (June 1, 1987)
Published	38 years, 3 months ago (June 1, 1987)
Published Online	38 years, 3 months ago (June 1, 1987)
Published Print	38 years, 3 months ago (June 1, 1987)

Funders 0

None

BibTeX

@article{B_can_1987, title={Deletion and duplication of DNA sequences is associated with the embryonic lethal phenotype of the t9 complementation group of the mouse t complex.}, volume={1}, ISSN={1549-5477}, url={http://dx.doi.org/10.1101/gad.1.4.376}, DOI={10.1101/gad.1.4.376}, number={4}, journal={Genes & Development}, publisher={Cold Spring Harbor Laboratory}, author={Búcan, M and Herrmann, B G and Frischauf, A M and Bautch, V L and Bode, V and Silver, L M and Martin, G R and Lehrach, H}, year={1987}, month=jun, pages={376–385} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        7,
        12
      ]
    ],
    "date-time": "2025-07-12T22:52:37Z",
    "timestamp": 1752360757252
  },
  "reference-count": 42,
  "publisher": "Cold Spring Harbor Laboratory",
  "issue": "4",
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        1987,
        6
      ]
    ]
  },
  "abstract": "<jats:p>We have analyzed the genomic structure of three mouse t haplotypes of the t9 complementation group. Each of these t haplotypes, tw18, t4, and tks1, is known to have resulted from a rare recombination event between a complete t haplotype and a wild-type chromosome. Using molecular probes that identify sequences in the distal portion of the t complex, we have shown that each of these t haplotypes contains a similar (perhaps identical) deletion of one group of t complex sequences, and duplication of another group. These data suggest that the recombination events that produced these three t haplotypes involved similar unequal crossovers within the distal inversion. The deletion and duplication of genetic material associated with all members of the t9 complementation group tested provides a molecular explanation for the recessive lethal mutation associated with these t haplotypes.</jats:p>",
  "DOI": "10.1101/gad.1.4.376",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2007,
        6,
        5
      ]
    ],
    "date-time": "2007-06-05T21:15:46Z",
    "timestamp": 1181078146000
  },
  "page": "376-385",
  "source": "Crossref",
  "is-referenced-by-count": 36,
  "title": "Deletion and duplication of DNA sequences is associated with the embryonic lethal phenotype of the t9 complementation group of the mouse t complex.",
  "prefix": "10.1101",
  "volume": "1",
  "author": [
    {
      "given": "M",
      "family": "B\u00facan",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "B G",
      "family": "Herrmann",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "A M",
      "family": "Frischauf",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "V L",
      "family": "Bautch",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "V",
      "family": "Bode",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "L M",
      "family": "Silver",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "G R",
      "family": "Martin",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "H",
      "family": "Lehrach",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "246",
  "published-online": {
    "date-parts": [
      [
        1987,
        6,
        1
      ]
    ]
  },
  "reference": [
    {
      "key": "2021111319415757000_1.4.376.1",
      "first-page": "2076",
      "article-title": "Structure of amplified DNA in different syrian hamster cell lines resistant to N-(phosphonacetyl)-L-aspartate.",
      "volume": "3",
      "year": "1983",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "2021111319415757000_1.4.376.2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(84)90463-X"
    },
    {
      "key": "2021111319415757000_1.4.376.3",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(82)90200-8"
    },
    {
      "key": "2021111319415757000_1.4.376.4",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(82)90201-X"
    },
    {
      "key": "2021111319415757000_1.4.376.5",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/jez.1401430206"
    },
    {
      "key": "2021111319415757000_1.4.376.6",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(75)90033-1"
    },
    {
      "key": "2021111319415757000_1.4.376.7",
      "doi-asserted-by": "crossref",
      "first-page": "361",
      "DOI": "10.1093/genetics/83.2.361",
      "article-title": "Genetic changes in mutations at the T/t locus in the mouse.",
      "volume": "83",
      "year": "1976",
      "journal-title": "Genetics"
    },
    {
      "key": "2021111319415757000_1.4.376.8",
      "doi-asserted-by": "crossref",
      "first-page": "2899",
      "DOI": "10.1002/j.1460-2075.1986.tb04585.x",
      "article-title": "Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7.",
      "volume": "5",
      "year": "1986",
      "journal-title": "EMBO J."
    },
    {
      "key": "2021111319415757000_1.4.376.9",
      "doi-asserted-by": "publisher",
      "DOI": "10.1073/pnas.81.7.1991"
    },
    {
      "key": "2021111319415757000_1.4.376.10",
      "doi-asserted-by": "crossref",
      "first-page": "261",
      "DOI": "10.1093/genetics/38.3.261",
      "article-title": "Genetic analysis of seven newly discovered mutant alleles at locus in the house mouse.",
      "volume": "38",
      "year": "1953",
      "journal-title": "Genetics"
    },
    {
      "key": "2021111319415757000_1.4.376.11",
      "doi-asserted-by": "crossref",
      "first-page": "285",
      "DOI": "10.1093/genetics/47.3.285",
      "article-title": "Mutation and recombination in the vicinity of a complex gene.",
      "volume": "47",
      "year": "1962",
      "journal-title": "Genetics"
    },
    {
      "key": "2021111319415757000_1.4.376.12",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0003-2697(83)90418-9"
    },
    {
      "key": "2021111319415757000_1.4.376.13",
      "doi-asserted-by": "publisher",
      "DOI": "10.1007/BF01576983"
    },
    {
      "key": "2021111319415757000_1.4.376.14",
      "doi-asserted-by": "publisher",
      "DOI": "10.1007/BF00364499"
    },
    {
      "key": "2021111319415757000_1.4.376.15",
      "doi-asserted-by": "publisher",
      "DOI": "10.1007/BF00387855"
    },
    {
      "key": "2021111319415757000_1.4.376.16",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0168-9525(85)90040-X"
    },
    {
      "key": "2021111319415757000_1.4.376.17",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(86)90468-X"
    },
    {
      "key": "2021111319415757000_1.4.376.18",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(87)90078-X"
    },
    {
      "key": "2021111319415757000_1.4.376.19",
      "doi-asserted-by": "publisher",
      "DOI": "10.1126/science.7156978"
    },
    {
      "key": "2021111319415757000_1.4.376.20",
      "doi-asserted-by": "publisher",
      "DOI": "10.1017/S0016672300026239"
    },
    {
      "key": "2021111319415757000_1.4.376.21",
      "doi-asserted-by": "crossref",
      "first-page": "247",
      "DOI": "10.1038/hdy.1960.28",
      "article-title": "Effect of X-rays on the mutation of t-alleles in the mouse.",
      "volume": "14",
      "year": "1960",
      "journal-title": "Heredity"
    },
    {
      "key": "2021111319415757000_1.4.376.22",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(84)90393-3"
    },
    {
      "key": "2021111319415757000_1.4.376.23",
      "doi-asserted-by": "crossref",
      "first-page": "153",
      "DOI": "10.1017/S0016672300018280",
      "article-title": "Complementation reactions of a lethal mouse t-haplotype believed to include a deletion.",
      "volume": "33",
      "year": "1979",
      "journal-title": "Genet. Res."
    },
    {
      "key": "2021111319415757000_1.4.376.24",
      "unstructured": "Magnuson, T. 1983. Genetic abnormalities and early mammalian development. In Development in mammals, vol. 5 (ed. M. Johnson), pp. 209\u2013249. North-Holland Press, Amsterdam."
    },
    {
      "key": "2021111319415757000_1.4.376.25",
      "doi-asserted-by": "crossref",
      "first-page": "993",
      "DOI": "10.1093/genetics/114.3.993",
      "article-title": "Genetic analysis of a mouse t complex locus that is homologous to a kidney cDNA clone.",
      "volume": "114",
      "year": "1986",
      "journal-title": "Genetics"
    },
    {
      "key": "2021111319415757000_1.4.376.26",
      "doi-asserted-by": "publisher",
      "DOI": "10.1073/pnas.78.12.7634"
    },
    {
      "key": "2021111319415757000_1.4.376.27",
      "doi-asserted-by": "crossref",
      "unstructured": "Martin, G.R., Fox, H.S. Silver, L.M. and Joyner. A.L. 1987. Establishment of embryonic stem cell lines from pre-implantation mouse embryos homozygous for lethal mutations in the t-complex. Dev. Biol. (in press).",
      "DOI": "10.1016/0012-1606(87)90134-5"
    },
    {
      "key": "2021111319415757000_1.4.376.28",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0012-1606(67)90064-4"
    },
    {
      "key": "2021111319415757000_1.4.376.29",
      "doi-asserted-by": "publisher",
      "DOI": "10.1007/BF00364209"
    },
    {
      "key": "2021111319415757000_1.4.376.30",
      "unstructured": "Molecular complexity of Qa-2 antigens demonstrated by two-dimensional gel electrophoresis. J. Immunogenetics and (in press).. Robinson, P.J., . Lefkovits, I. . Fischer-Lindahl. K. ."
    },
    {
      "key": "2021111319415757000_1.4.376.31",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(84)90358-1"
    },
    {
      "key": "2021111319415757000_1.4.376.32",
      "doi-asserted-by": "crossref",
      "first-page": "723",
      "DOI": "10.1093/genetics/113.3.723",
      "article-title": "Nonhomologous pairing in mice heterozygous for a t haplotype can produce recombinant chromosomes with duplications and deletions.",
      "volume": "113",
      "year": "1986",
      "journal-title": "Genetics"
    },
    {
      "key": "2021111319415757000_1.4.376.33",
      "unstructured": "Sherman, M. and L. Wudl. 1977. T-complex mutations and their effects. In Concepts in mammalian embryogenesis (ed. M. Sherman), pp. 136\u2013234. MIT Press, Cambridge, Massachusetts."
    },
    {
      "key": "2021111319415757000_1.4.376.34",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/306380a0"
    },
    {
      "key": "2021111319415757000_1.4.376.35",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/0092-8674(84)90464-1"
    },
    {
      "key": "2021111319415757000_1.4.376.36",
      "doi-asserted-by": "crossref",
      "first-page": "436",
      "DOI": "10.1093/oxfordjournals.jhered.a110140",
      "article-title": "Confidence limits for estimates of gene linkage based on analysis of recombinant inbred strains.",
      "volume": "76",
      "year": "1985",
      "journal-title": "J. Hered."
    },
    {
      "key": "2021111319415757000_1.4.376.37",
      "doi-asserted-by": "crossref",
      "first-page": "179",
      "DOI": "10.1146/annurev.ge.19.120185.001143",
      "article-title": "Mouse t haplotypes.",
      "volume": "19",
      "year": "1985",
      "journal-title": "Annu. Rev. Genet."
    },
    {
      "key": "2021111319415757000_1.4.376.38",
      "doi-asserted-by": "publisher",
      "DOI": "10.1073/pnas.77.10.6077"
    },
    {
      "key": "2021111319415757000_1.4.376.39",
      "doi-asserted-by": "crossref",
      "unstructured": "Silver, L.M. and Remis. D. 1987. Five of the nine genetically defined regions of mouse t-haplotypes are involved in transmission ratio distortion. Genet Res. (in press).",
      "DOI": "10.1017/S0016672300026720"
    },
    {
      "key": "2021111319415757000_1.4.376.40",
      "doi-asserted-by": "crossref",
      "first-page": "723",
      "DOI": "10.1093/genetics/110.4.723",
      "article-title": "The locus encoding \u03b1 A-crystallin is closely linked to H-2K on mouse chromosome 17.",
      "volume": "110",
      "year": "1985",
      "journal-title": "Genetics"
    },
    {
      "key": "2021111319415757000_1.4.376.41",
      "doi-asserted-by": "crossref",
      "unstructured": "Taylor, B.A. 1978. Recombinant inbred strains: Use in gene mapping. In Origins of inbred mice, (ed. Herbert C. Morse III), pp. 432\u2013438. Academic Press, New York.",
      "DOI": "10.1016/B978-0-12-507850-4.50032-9"
    },
    {
      "key": "2021111319415757000_1.4.376.42",
      "doi-asserted-by": "publisher",
      "DOI": "10.1073/pnas.80.11.3425"
    }
  ],
  "container-title": "Genes &amp; Development",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://syndication.highwire.org/content/doi/10.1101/gad.1.4.376",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2021,
        11,
        14
      ]
    ],
    "date-time": "2021-11-14T03:42:32Z",
    "timestamp": 1636861352000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "http://genesdev.cshlp.org/lookup/doi/10.1101/gad.1.4.376"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        1987,
        6
      ]
    ]
  },
  "references-count": 42,
  "journal-issue": {
    "issue": "4",
    "published-online": {
      "date-parts": [
        [
          1987,
          6,
          1
        ]
      ]
    },
    "published-print": {
      "date-parts": [
        [
          1987,
          6
        ]
      ]
    }
  },
  "alternative-id": [
    "10.1101/gad.1.4.376"
  ],
  "URL": "http://dx.doi.org/10.1101/gad.1.4.376",
  "relation": {},
  "ISSN": [
    "0890-9369",
    "1549-5477"
  ],
  "subject": [],
  "container-title-short": "Genes Dev.",
  "published": {
    "date-parts": [
      [
        1987,
        6
      ]
    ]
  }
}