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  • Springer  (8)
  • 1
    Electronic Resource
    Electronic Resource
    Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 352-358 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Tyrosinemia II is an autosomal-recessively inherited condition caused by deficiency in the liver-specific enzyme tyrosine aminotransferase (TAT; EC 2.6.1.5). We have restudied a patient with typical symptoms of tyrosinemia II who in addition suffers from multiple congenital anomalies including severe mental retardation. Southern blot analysis using a human TAT cDNA probe revealed a complete deletion of both TAT alleles in the patient. Molecular and cytogenetic analysis of the patient and his family showed one deletion to be maternally inherited, extending over at least 27 kb and including the complete TAT structural gene, whereas loss of the second TAT allele results from a small de novo interstitial deletion, del 16 (pter→q22.1::q22.3→qter), in the paternally inherited chromosome 16. Three additional loci previously assigned to 16q22 were studied in our patient: haptoglobin (HP), lecithin: cholesterol acyltransferase (LCAT), and the metallothionein gene cluster MT1, MT2. Of these three markers, only the HP locus was found to be codeleted with the TAT locus on the del(16) chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291426
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  • 2
    Electronic Resource
    Electronic Resource
    A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 666-668 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two loci on the short arm of the human Y chromosome have recently been described as candidates for the testis determining factor (TDF); namely, ZFY, and a locus distal to ZFY, near the pseudoautosomal boundary. We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with testicular tissue in their gonads in the apparent absence of Y-specific DNA sequences. A reanalysis of these cases shows them all to lack ZFY, but one 46,XX true hermaphrodite carries sequences next to the Y pseudoautosomal boundary. This case provides further evidence for assigning the TDF locus very close to the pseudoautosomal region on Yp.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193595
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  • 3
    Electronic Resource
    Electronic Resource
    Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9 (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 186-193 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Campomelic dysplasia (CMPD1) and autosomal XY sex reversal (SRA1) are caused by mutations in the SRY-related gene SOX9 on 17q. Unexpectedly, the 17q breakpoints in four CMPD l translocation cases previously analyzed by us and others map 50 kb or more from SOX9. Here, we present clinical, cytogenetic, and molecular data from a new CMPD1/SRA1 patient with t(6; 17) (q14; q24). Fluorescence in situ hybridization has shown that the 17q breakpoint in this case maps to the same region as the breakpoints in the other translocation cases, at least 130 kb from SOX9. Likewise, the breakpoints in two of the previously described cases also map more than 130 kb and, as shown by pulsed field gel electrophoresis analysis, at most 400 kb or 690 kb from SOX9. By using a SOX9 coding sequence polymorphism, expression of both SOX9 alleles has been demonstrated by the reverse transcriptase polymerase chain reaction in lymphoblastoid cells from one of the translocation cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265263
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  • 4
    Electronic Resource
    Electronic Resource
    A familial mutation in the testis-determining gene SRY shared by both sexes (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 350-355 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A familial mutation in SRY, the gene coding for the testis-determining factor TDF, was identified in an XY female with gonadal dysgenesis, her father, her two brothers and her uncle. The mutation consists of a T to C transition in the region of the SRY gene coding for a protein motif known as the high mobility group (HMG) box, a protein domain known to confer DNA-binding specificity on the SRY protein. This point mutation results in the substitution, at amino acid position 109, of a serine residue for phenylalanine, a conserved aromatic residue in almost all HMG box motifs known. This F109S mutation was not found in 176 male controls. When recombinant wildtype SRY and SRYF109S mutant protein were tested in vitro for binding to the target site AAC AAAG, no differences in DNA-binding activity were observed. These results imply that the F109S mutation either is a rare neutral sequence variant, or produces an SRY protein with slightly altered in vivo activity, the resulting sex phenotype depending on the genetic back-ground or environmental factors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220457
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  • 5
    Electronic Resource
    Electronic Resource
    The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 260-264 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Deficiency in hepatic tyrosine aminotransferase (TAT) causes tyrosinemia type II, an autosomal recessively inherited disorder. Using a TAT cosmid clone, we have identified an MspI restriction fragment length polymorphism (RFLP) 5′ to the TAT gene, with allele frequencies of 0.63 and 0.37. Analysis of the cloned maternal and paternal TAT alleles from patient with tyrosinemia type II led to the identification of a HaeIII RFLP at the 3′ end of the TAT gene, with allele frequencies of 0.94 and 0.06. The two RFLPs are 27 kb apart and in no allelic association. From haplotype frequencies, a polymorphism information content (PIC) value of 0.44 was obtained. The two RFLPs have allowed the unambiguous identification of the mutant TAT alleles in the patient's pedigree by haplotype analysis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00366248
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  • 6
    Electronic Resource
    Electronic Resource
    Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man (1989)
    Springer
    Human genetics 〈Berlin〉 81 (1989), S. 291-294 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two 46,XY females with tandem duplications of an X short arm segment were studied by cytogenetic and Southern blot analysis. The results show that the duplicated segment in each case included the Xp21.2–Xp22.2 interval, resulting in a double dose of ZFX on the single active X chromosome. The results from our two cases, in conjunction with those reported by other workers, lead us to conclude that the duplication is the reason for the sex inversion. If ZFY and ZFX are indeed sex-determining gene loci, these findings favour a model of sex determination characterized by antagonistic interaction between these genes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279008
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  • 7
    Electronic Resource
    Electronic Resource
    High-resolution mapping of a linkage group on mouse Chromosome 8 conserved on human Chromosome 16Q (1997)
    Springer
    Mammalian genome 8 (1997), S. 172 -177 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We have performed a high-resolution linkage analysis for the conserved segment on distal mouse Chromosome (Chr) 8 that is homologous to human Chr 16q. The interspecific backcross used involved M. m. molossinus and an M. m. domesticus line congenic for an M. spretus segment from Chr 8 flanked by phenotypic markers Os (oligosyndactyly) and e, a coat colormarker. From a total of 682 N2 progeny, the 191 animals revealing a recombination event between these phenotypic markers were typed for 23 internal loci. The following locus order with distances in cM was obtained: (centromere)–Os–4.1–Mmp2–0.2–Ces1,Es1, Es22–1.2–Mt1,D8Mit15–2.2–Got2, D8Mit11–3.7–Es30–0.3–Es2, Es7–0.9–Ctra1,Lcat–0.3–Cdh1, Cadp, Nmor1, D8Mit12–0.2–Mov34–2.5–Hp,Tat–0.2–Zfp4–1.6–Zfp1,Ctrb–10.9–e. In a separate interspecific cross involving 62 meioses, Dpep1 was mapped together with Aprt and Cdh3 at 12.9 cM distal to Hp, Tat, to the vicinity of e. Our data give locus order for markers not previously resolved, add Mmp2 and Dpep1 as new markers on mouse Chr 8, and indicate that Ctra1 is the mouse homolog for human CTRL. Comparison of the order of 17 mouse loci with that of their human homologs reveals that locus order is well conserved and that the conserved segment in the human apparently spans the whole long arm of Chr 16.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003359900384
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  • 8
    Electronic Resource
    Electronic Resource
    An unequivocal1H NMR structural assignment of TOX8 and TOX9, the two most abundant toxaphene congeners in marine mammals (1994)
    Springer
    Fresenius' Zeitschrift für analytische Chemie 349 (1994), S. 552-558 
    Details
    ISSN: 1618-2650
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Abstract The structure of the two most abundant toxaphene congeners has unequivocally been established by 500 MHz1H NMR spectroscopy as 2-endo,3-exo,5-endo, 6-exo,8,8,9,10,10-nonachlorobornane (TOX9) and as 2-endo,3-exo,5-endo,6-exo,8,8,10,10-octachlorobornane (TOX8). Semiempirical calculations (AM1 and PM3-MNDO) were carried out for both structures. The distance information found by nuclear Overhauser enhancement (NOE) for the protons is in agreement with the energy minimized AM1 and PM3-MNDO structures. For these definitively established NMR data for TOX8 and TOX9, together with literature data for other toxaphene isolates, a set of rules has been derived for1H chemical shifts in polychlorinated bornane structures. A set of rules is also proposed for assigning systematical nomenclature to NMR-derived polychloro bornane structures.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00323993
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