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  • 1
    Electronic Resource
    Electronic Resource
    Unequal expression of NF1 alleles (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 6 (1994), S. 331-331 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Sir — After the cloning of the neurofibromatosistype 1 (NF1) gene in 1990 1–3, numerous groups began to search for causative mutations. Although several hundred patients were included in studies carried out by the members of the NNFF International NF1 Genetic Analysis Consortium, only ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0494-331
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  • 2
    Electronic Resource
    Electronic Resource
    Analysis of an alternatively spliced exon of the neurofibromatosis type 1 gene in cultured melanocytes from patients with neurofibromatosis 1 (1995)
    Springer
    Archives of dermatological research 287 (1995), S. 413-416 
    Details
    ISSN: 1432-069X
    Keywords: Neurofibromatosis type 1 (NF1) ; Melanocyte culture ; NF1 Gene ; Café-au-lait macules
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1) is characterized by clinical features that primarily affect tissues derived from the neural crest (neurofibromas, café-au-lait macules). Because aberrant regulation of alternative splicing in the NF1 gene transcript may be of functional significance, cultured melanocytes from café-au-lait macules (CALM), as an example of benign NF1 lesions, were examined for the expression of the different alternative splice products of this gene. Both kinds of NF1 messengers (type 1 and 2) were found not only in CALM melanocytes but also in keratinocytes, fibroblasts and blood cells. Except in blood cells, there was a predominance of the type 2 transcript. Melanocytes from NF1 patients and healthy donors showed similar expression patterns under several culture conditions. Our results suggest that the development of CALM does not correlate with a switch in the ratio of type 1 to type 2 NF1 messenger RNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00373420
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  • 3
    Electronic Resource
    Electronic Resource
    Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2 (1997)
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 67-74 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The case of a seriously disabled and retarded female patient with neurofibromatosis type 2 (NF2) is reported. She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46,XX, r(22)/45,XX,–22. A constitutional G to A transition in the proximal 3′ untranslated region of isoforms 1 and 2 was identified in the patient’s NF2 gene and shown not to affect differential splicing or mRNA stability. The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050467
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  • 4
    Electronic Resource
    Electronic Resource
    A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2 (1997)
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 595-600 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Sequences related to the neurofibromatosis type 1 (NF1) gene have been identified on several human chromosomes. In the centromeric region of chromosomes 14 and 15, two NF1 pseudogenes have been described. Sequence comparison between NF1-related exons amplified from two yeast artificial chromosome clones hybridizing to chromosomal region 15q11.2 and published NF1-related sequences localized at 15q11.2 suggested that a third NF1 pseudogene resides in this chromosomal region. The previous localization of an NF1-related locus to the telomeric part of chromosome 15 could not be confirmed by us. Our findings further support pericentromeric spreading of partial NF1 gene copies at chromosome 15q11.2 during evolution.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050559
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  • 5
    Electronic Resource
    Electronic Resource
    Restriction analysis of chromosomal sequences homologous to single-copy fragments cloned from small polydisperse circular DNA (spcDNA) (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 249-254 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Restriction fragments from the fraction of small polydisperse circular DNA (spcDNA) were cloned in pBR322. The spcDNA was prepared from cell cultures derived from an angiofibroma of a patient with tuberous sclerosis (TS). Such cultures have been shown previously to contain increased amounts of spcDNA. Four cloned spcDNA fragments containing single-copy sequences were chosen to characterize the homologous chromosomal DNA segments by restriction analysis. When used as hybridization probes, these four fragments generate well-defined nonvariable patterns in the chromosomal DNA from healthy donors. The restriction patterns obtained with one of the fragments (D-C4) can best be interpreted by assuming the presence of two copies of the homologous sequences in chromosomal DNA. A second sequence, A-B4, occurs at least 30–50 times in the haploid human genome. In both cases the duplicated regions span relatively large segments of DNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291164
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  • 6
    Electronic Resource
    Electronic Resource
    Analysis of human extrachromosomal DNA elements originating from different β-satellite subfamilies (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 489-495 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract By screening total human DNA with probes derived from the small polydisperse circular (spc) DNA fraction of cultured human cells, we identified three clones that carry long stretches of β-satellite DNA. Further experiments have shown that the three sequences belong to at least two different β-satellite subfamilies, which are characterized by different higher order subunits. Members of one of these subfamilies are located in the cytological satellites of all acrocentric chromosomes, whereas members of another are located on the short arms of the acrocentrics on both sides of the stalk regions and also in the centromeric regions of chromosomes 1 and 9. This is the first time that β-satellite sequences obtained from the spcDNA of human cells have been assigned to β-satellite subfamilies that are organized as long arrays of tandemly arranged higher order monomers. This indicates that β-satellite sequences can be excised from their chromosomal loci via intrastrand-recombination processes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00217778
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  • 7
    Electronic Resource
    Electronic Resource
    An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 481-482 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We describe an RsaI polymorphism in the transcribed region (exon 5) of the neurofibromatosis type 1 (NF1)-gene
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201684
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  • 8
    Electronic Resource
    Electronic Resource
    The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 237-247 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (NF1) and in her affected daughter. Sequence analysis of cloned junction fragments traversing the breakpoints allowed the identification of the structures involved in the rearrangement. Aberrant bands in Southern hybridizations of restriction enzyme-digested DNA of the patient pointed to the disruption of the NF1 gene in intron 31. Semispecific polymerase chain reaction analysis of the genomic DNA of the patient with the specific primer anchored at NF1 exon 31 was used to obtain the breakpoint-spanning fragment of the derivative chromosome 17. The intron 31 sequence turned out to be interrupted within a large irregular (AT) repeat. The chromosome 22-derived sequence of the der(17) junction fragment allowed us to identify cosmids of the corresponding region from a chromosome 22-specific cosmid library. With the support of the breakpoint-spanning cosmids, the chromosome 22 region upstream of the fragment carried by the der(17) was characterized. Primers deduced from the sequence of this upstream region were used in combination with a primer in NF1 intron 31 distal to the breakpoint on chromosome 17 to amplify the der(22) junction fragment. The structure of the junction sequences suggested that the translocation had arisen by unequal homologous recombination between (AT)-rich repeats on chromosome 22 and on chromosome 17 in intron 31 of the NF1 gene. However, our data support the assumption of additional rearrangements prior to, or in the course of, the recombination event, leading to a loss of the sequences between the involved (AT) repeats on chromosome 22. In the direct vicinity of these (AT) repeats, two members of a previously undescribed low-copy repetitive sequence have been found, copies of which are also present on human chromosome 13.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050346
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  • 9
    Electronic Resource
    Electronic Resource
    Analysis of segregation and expression of an identified mutation at the neuroflbromatosis type 1 locus (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 356-359 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase chain reaction amplification of the segment carrying the mutation revealed that both alleles were expressed in both cell types analysed, thus excluding loss of heterozygosity in this particular instance. Segregation of the alleles of the intragenic Alu sequence length-polymorphism disclosed the paternal orgin of the mutated allele. Detection of this mutation was also used for presymptomatic direct DNA diagnosis in the younger child of the patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220458
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  • 10
    Electronic Resource
    Electronic Resource
    A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 685-687 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. This mutation could also be detected in the patient and in his affected daughter by heteroduplex analysis. The deletion removes the proximal half of a small potential stem-loop and interrupts the reading frame in exon 1. A severely truncated protein with a grossly altered carboxy terminus lacking one third of its sequence is expected to be formed from the mutant allele.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201726
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