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  • 1
    Keywords: brain ; EXPRESSION ; Germany ; DEATH ; NEW-YORK ; GENE ; GENES ; GENOME ; TISSUE ; FAMILY ; TISSUES ; BIOLOGY ; MEMBERS ; MOLECULAR-BIOLOGY ; chromosome ; MOUSE ; NO ; STAGE ; DISRUPTION ; MUTATION ; genetics ; REGION ; REGIONS ; CARRIERS ; TRANSLOCATION ; heredity ; DOMAINS ; LETHALITY ; molecular biology ; molecular ; FAMILIES ; LEADS ; CANDIDATE GENES ; GENE FAMILY ; LEVEL ; autism ; USA ; CANDIDATE ; microbiology ; biotechnology ; DYSFUNCTION ; FETAL ; breakpoint ; CNTNAP2 ; K+ CHANNELS ; MYELINATED AXONS ; NEUREXIN SUPERFAMILY
    Abstract: We have previously described the paralogous mouse genes Caspr5-1, -2, and -3 of the neurexin gene family. Here we present the cytogenetic and molecular mapping of a null mutation of Caspr5-2 which was caused by reciprocal translocation between chromosomes 1 and 8 with breakpoints at bands 1E2.1 and 8B2.1, respectively. The translocation disrupts Caspr5-2 between exons 1 and 2 and causes stillbirth or early postnatal lethality of homozygous carriers. Because no other candidate genes were found, the disruption of Caspr5-2 is most likely the cause of lethality. Only rarely do homozygotes survive the critical stage, reach fertility, and are then apparently normal. They may be rescued by one of the two other Caspr5 paralogs. Caspr5-2 is expressed in spinal cord and brain tissues. Despite giving special attention to regions where in wild-type fetuses maximum expression was found, no malformation that might have caused death could be detected in fetal homozygous carriers of the translocation. We, therefore, suspect that Caspr5-2 disruption leads to dysfunction at the cellular level rather than at the level of organ development
    Type of Publication: Journal article published
    PubMed ID: 18949514
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  • 2
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We describe a genetic analysis of l(17)-2Pas, an embryonic lethal mutation on murine chromosome 17. Males transmitted the l(17)-2 allele to only 38% of their offspring, whereas females transmitted this allele at 50%. Two-point crosses revealed tight linkage between l(17)-2 and brachyury (T), and deletion mapping placed l(17)-2 outside of the hairpin-tail deletion (T hp ). To map this mutation more precisely, we intercrossed hybrid mice that carry distinct alleles at many classical and DNA loci on chromosome 17 and obtained 172 animals recombinant in the T to H-2 region. Strong positive interference was observed over the 14 cM interval from T to H-2K. Thus, a single recombinant can be informative; one such recombinant places l(17)-2 distal of the molecular marker D17Leh66D. Robust genetic maps can be constructed with multilocus crosses that share anchor loci. DNA markers can be interpolated onto these maps retrospectively.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The spontaneous allele quakingviable (qk v ) exerts effects on myelination and spermiogenesis. The defects generated by qk v were not separated in a multilocus mapping cross that provided a mapping resolution of 0.1 centiMorgans (cM). Furthermore, no distortions suggestive of a large chromosomal anomaly associated with qk v were apparent. One plausible interpretation is that the quaking locus contains more than one functional domain, either organized into overlapping genes or expressed by alternative splicing mechanisms. The cloning needed to analyze this locus will be enhanced by the very high resolution of the meiotic mapping cross reported here. The recombinational distances on this qk v map were compressed compared with those previously reported in a high-resolution map for qk 1–1, an embryonic lethal allele of quaking induced by ethylnitrosourea. Additional crosses confirmed prior reports that the sex and the genetic background of the heterozygous parent can affect recombinational distances. These joint effects on recombination are strong enough to account for the discrepancy between the two maps. This variability of two-factor map values leads to the preferred multilocus map-building protocol discussed in the accompanying paper.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A human hair cuticle ultrahigh-sulphur keratin (UHSK) gene (KRN1) has been mapped by Southern analysis of a somatic cell hybrid panel and by in situ hybridization. A probe containing the coding region of this gene mapped to 11pter-〉11q21 using the hybrid cell panel and on in situ hybridization mapped to two regions on chromosome 11: the distal part of 11p15, most likely 11p15.5, and the distal part of 11q13, most likely 11q13.5. A probe from the 3′ non-coding region of KRN1 mapped to 11q13.5 indicating that this was the map location of the cloned gene. The sequence of 11p15.5 is termed KRN1-like (KRN1L). The results reveal that the cuticle UHSK gene family is clustered in the human genome.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Mammalian genome 1 (1991), S. 59-64 
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Mammalian genome 1 (1991), S. 69-70 
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Mapping studies have indicated that hundreds of Kruppel-type zinc-finger (ZNF)-containing genes are present within the genomes of mammals. One-third or more of these genes contain a second, highly conserved element termed the Kruppel-associated box (KRAB). In a recent study, several partial cDNA clones encoding distinct KRAB elements were mapped in mouse. One of these sequences, clone KRAB10, was assigned to mouse Chromosome (Chr) 9. We have isolated the complete coding portion of the KRAB10-containing gene and demonstrate that it is identical to Zfp54, one of several related ZNF genes that are located on mouse Chr 17 in the interval that is deleted in the t w18 mutation. Sequence analysis has shown that the KRAB A domain encoded by Zfp54 is highly similar to the comparable motif encoded by its nearest known neighbor, Zfp51. However, other portions of the related proteins, including their ZNF domains, are noticeably different in structure. Studies of Zfp54 expression revealed the presence of transcript in several adult tissues and in embryos throughout development; however, elevated levels of transcript were detected only in adult testis and in 7-day-old embryos. These data suggest that Zfp54 gene expression is under spatial and temporal control and may, therefore, play important roles in male germ cell and embryonic development.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The suppression of crossing-over and the consequent linkage disequilibrium of genetic markers within the t complex of the house mouse is caused by two large and two short inversions. The inversions encompass a region that is some 15 centiMorgans (cM) long in the homologous wild-type chromosome. The limits of the proximal inversions are reasonably welldefined, those of the distal inversions much less so. We have recently obtained seven new DNA markers (D17Tu) which in wild-type chromosomes map into the region presumably involved in the distal inversions of the t chromosomes. To find out whether the corresponding loci do indeed reside within the inversions, we have determined their variability among 26 complete and 12 partial t haplotypes. In addition, we also tested the same collection of t haplotypes for their variability at five D17Leh, Hba-ps4, Pim-1, and Crya-1 loci. The results suggest that the distal end of the most distal inversion lies between the loci D17Leh467 and D17Tu26. The proximal end of the large distal inversion was mapped to the region between the D17Tu43 and Hba-ps4 loci, but this assignment is rather ambiguous. The loci Pim-1, Crya-1, and the H-2 complex, which have been mapped between the Hba-sp4 and Grr within the large distal inversion, behave as if they recombine from time to time with their wildtype homologs.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Pulsed electrophoresis was used to study the organization of the human centromeric region. Genomic DNA was digested with rare-cutting enzymes. DNA fragments from 0.2 to greater than 5.7 Mb were separated by electrophoresis and hybridized with alphoid and simple DNA repeats. Rare-cutting enzymes (Mlu I, Nar I, Not I, Nru I, Sal I, Sfi I, Sst II) demonstrated fewer restriction sites at centromeric regions than elsewhere in the genome. The enzyme Not I had the fewest restriction sites at centromeric regions. As much as 70% of these sequences from the centromeric region are present in Not I DNA fragments greater than 5.7 and estimated to be as large as 10 Mb in size. Other repetitive sequences such as short interspersed repeated segments (SINEs), long interspersed repeated segments (LINEs), ribosomal DNA, and minisatellite DNA that are not enriched at the centromeric region, are not enriched in Not I fragments of greater than 5.7 Mb in size.
    Type of Medium: Electronic Resource
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