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Biomedical subjects

G Rappold

Publications and source records attributed to G Rappold.

At least 37 records · Page 2Linked to original sources
PubMed1997

Genes located in and near the human pseudoautosomal region are located in the X-Y pairing region in dog and sheep.

We cloned and mapped the dog and/or sheep homologues of two human pseudoautosomal genes CSF2RA and ANT3. We also cloned and mapped dog and/or sheep homologues of STS and PRKX, which are located nearby on the differential region of the human X and have related genes or pseudogenes on the Y. STS, as well as CSF2RA, mapped to the tips of the short arm of the sheep X and Y (Xp and Yp), and STS and PRKX, as well as ANT3, mapped to the tips of the dog Xp and Y long arm (Yq). These locations within the X-Y pairing regions suggest that the regions containing all these human Xp22.3-Xpter genes are pseudoautosomal in dog and sheep. This supports the hypothesis that a larger pseudoautosomal region (PAR) shared by eutherian groups was disrupted by chromosomal rearrangements during primate evolution. The absence of STS and ANT3 from the sex chromosomes in two prosimian lemur species must therefore represent a recent translocation from their ancestral PAR, rather than retention of a smaller ancestral PAR shared by mouse.

Animals↗
PubMed1997

FISH localization of the human Y-homolog of protein kinase PRKX (PRKY) to Yp11.2 and two pseudogenes to 15q26 and Xq12-->q13.

Recently, we reported the isolation of a new subfamily of serine-threonine protein kinases. This subfamily was shown to consist of at least four members. Sequencing and FISH mapping of all 4 members now reveals that the Y-homolog (PRKY) of the previously mapped PRKX gene (Xp22.3) is located in Yp11.2, in close vicinity to AMELY. The other two copies reside on Xq12-->q13 (PRKXP2) and 15q26 (PRKXP1, containing CA repeat STS D15S87) and represent pseudogenes.

Base Sequence↗
PubMed1997

[Fresh injuries of the tractus intermedius of the extensor aponeurosis. Diagnosis, classification and therapy].

A test for early diagnosis of closed isolated ruptures of the central slip of the extensor hood is described. Five different lesions are described. Conservative treatment is adequate for ruptures with undislocated bone fragments. Operative treatment is required when the central slip has been avulsed with a dislocated bone fragment, in cases of combined lesions of the PIP joint (including central slip, collateral ligaments and/or the palmar plate) and finally open lesions. An isolated closed rupture of the central slip is a relative indication for surgery and is treated conservatively under specified circumstances.

Adult↗
PubMed1996

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

Although genotype-phenotype correlations in male patients with various types of nullisomy for Xp22.3 have assigned a locus for X-linked mental retardation (MRX) to an approximately 3-Mb region between DXS31 and STS, the precise location has not been determined. In this paper, we describe a 14 7/12 year old Japanese boy with mental retardation and an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1, and compare the deletion map with that of previously reported three familial male patients with low-normal intelligence and a similar interstitial deletion at Xp22.3. The results suggest that the MRX gene is further localized to the roughly 1.5-Mb region between DXS1060 and DXS1139.

Eye Proteins↗
PubMed1996

Double-strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome.

Meiotic recombination in the yeast Saccharomyces cerevisiae is initiated at double-strand breaks (DSBs), which occur preferentially at specific locations. Genetically mapped regions of elevated meiotic recombination ('hotspots') coincide with meiotic DSB sites, which can be identified on chromosome blots of meiotic DNA (refs 4,5; S.K. et al., manuscript submitted). The morphology of yeast artificial chromosomes (YACs) containing human DNA during the pachytene stage of meiosis resembles that of native yeast chromosomes. Homologous YAC pairs segregate faithfully and recombine at the high rates characteristic of S. cerevisiae (vs. approximately 0.4 cM/kb in S. cerevisiae versus approximately 10-3 cM/kb in humans). We have examined a variety of YACs carrying human DNA inserts for double-strand breakage during yeast meiosis. Each YAC has a characteristic set of meiotic DSB sites, as do yeast chromosomes (S.K. et al., manuscript submitted). We show that the positions of the DSB sites in the YACs depend on the human-derived DNA in the clones. The degree of double-strand breakage in yeast meiosis of the YACs in our study appears to reflect the degree of meiotic recombination in humans.

Chromosome Mapping↗
PubMed1996

An integrated YAC map of the human X chromosome.

The human X chromosome is associated with a large number of disease phenotypes, principally because of its unique mode of inheritance that tends to reveal all recessive disorders in males. With the longer term goal of identifying and characterizing most of these genes, we have adopted a chromosome-wide strategy to establish a YAC contig map. We have performed > 3250 inter Alu-PCR product hybridizations to identify overlaps between YAC clones. Positional information associated with many of these YAC clones has been derived from our Reference Library Database and a variety of other public sources. We have constructed a YAC contig map of the X chromosome covering 125 Mb of DNA in 25 contigs and containing 906 YAC clones. These contigs have been verified extensively by FISH and by gel and hybridization fingerprinting techniques. This independently derived map exceeds the coverage of recently reported X chromosome maps built as part of whole-genome YAC maps.

Chromosome Mapping↗
PubMed1995

Characterization of a YAC contig spanning the pseudoautosomal region.

Due to its unique biology of partial sex linkage and high recombination rates, the pseudoautosomal region (PAR1) on both X and Y chromosomes has attracted considerable interest. In addition, an extremely high level of YAC instability has been observed in this region. We have derived 82 YAC clones from six different YAC libraries mapping to this 2.6-Mb region. Of these a subset of 22 YACs was analyzed in detail. YAC contigs were assembled using 67 pseudoautosomal probes, of which 64 were unambiguously ordered. All markers are well distributed over the entire region, including the middle part of the region, which has previously been found difficult to contig. Two gaps of less than 50 kb within the genomic locus of CSF2RA and around XE7 remain, which could not be covered with YACs, cosmids, or phages. This YAC contig anchored on the physical map of PAR1 represents one of the best characterized large regions of the human genome with a map completion greater than 90% at 100-kb resolution and has permitted the accurate localization of all known genes within this region.

Chimera↗
PubMed1995

Refinement of the locus for X-linked recessive chondrodysplasia punctata.

Although the locus for X-linked recessive chondrodysplasia punctata (CDPX1) has been mapped to the region between PABX and DXS31 (the critical region is about 3 Mb long), the precise location within the critical region has not been determined. In this paper, we describe a boy with a 46,Y,der(X)t(X;Y)(p22.3;q11)mat karyotype and review the genotype-phenotype correlations in three male patients with the combination of apparent lack of clinical features of CDPX1 and a partial deletion of the critical region. The results suggest that the region defined by the two BssHII sites at 3180 and 3570 kb from the Xp telomere may be the target region for the CDPX1 locus.

Adolescent↗
PubMed1995

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability.

We have isolated a gene, PKX1, by virtue of its position within the candidate region for chondrodysplasia punctata in Xp22.3. Although data from one patient render it unlikely that PKX1 is the CDPX gene, this gene shows several interesting features. First, PKX1 appears to encode a novel type of human protein kinase that is related to the catalytic subunit of cAMP-dependent protein kinases and has striking homology to the DC2 protein kinase from Drosophila melanogaster. Second, PKX1 is part of a family of at least four genes or pseudogenes, of which three map to the human sex chromosomes. In contrast to all other genes from the X-specific region of Xp22.3, PKX1 has a homologue on Yp rather than Yq. This is intriguing as it indicates that the single pericentric inversion event hypothesized to have occurred during primate evolution is not sufficient to explain the present X/Y-homology pattern of Xp22.3. Third, we have characterized patients with different chromosomal rearrangements in Xp22.3 or Yp and show that a high proportion of these have occurred within the PKX1 locus. This suggests that the PKX1 gene, besides harbouring a previously described hot-spot for illegitimate Xp/Yp-recombination, contains additional sequences predisposing to chromosomal breakage events.

Amino Acid Sequence↗
PubMed1994

Identification of YAC and cosmid clones encompassing the ZFX-POLA region using irradiation hybrid cell lines.

The human Xp21.3-p22.1 region is poorly mapped relative to other X chromosome regions. To target cosmid and YAC clones specifically from Xp21.3-p22.1 for rapid contig construction, a hybridization-based screening approach using irradiation hybrids has been used. Alu-PCR products generated from hybrid lines containing small overlapping fragments from Xp21-p22 were hybridized to an X chromosome cosmid library, and cosmids predicted by their hybridization pattern to map to the region of interest were analyzed by fluorescence in situ hybridization (FISH). Hybridization of the cosmids in pools to gridded YAC libraries identified 15 YACs, which were verified and tested for chimerism by FISH. Cosmid content analysis of the YACs defined two contigs, one with 12 YACs covering about 1.5 Mb and one with 3 YACs. Five YACs from the 12-YAC cluster had been previously recognized by DNA polymerase alpha (POLA). ZFX identified a single YAC; hence, the physical linkage of ZFX and POLA was demonstrated within the contig. Four YACs had been isolated previously with ZFX and these extend the contig to 2 Mb. Restriction mapping of several YACs demonstrates that ZFX and POLA are about 700 kb apart, a distance similar to that reported in the mouse between Zfx and Pola. The order of these two loci and two additional loci identified by homologous mouse linking clones was found to be conserved between human and mouse: tel-ZFX-DXCrc57-DXCrc140-POLA-cen. We have shown that YAC contigs can be rapidly constructed from targeted regions without the need for time-consuming YAC end rescue and chromosomal walking.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1994

Organisation of the murine 5-HT3 receptor gene and assignment to human chromosome 11.

We have isolated the murine gene encoding the 5-HT3 receptor (5-HT3R), a member of the ligand-gated ion channels, that mediates a variety of physiological effects in central and peripheral neurons. DNA sequence analysis of the 5-HT3R gene revealed its organisation in 9 exons distributed over approximately 12 kbp of DNA. Alternative use of exon 9 splice acceptor sites generated two 5-HT3R variants. The 5-HT3R gene, whose structure is closely related to neuronal and muscle AChR alpha genes, as demonstrated by four common splice junctions, was localised on human chromosome 11.

Amino Acid Sequence↗
PubMed1994

[Combination of Monteggia and Galeazzi injury of the same arm].

A combination injury to the forearm, consisting of Monteggia- and Galeazzi lesion is described. After osteosyntheses of the fractures the dislocation of the head of radius and ulna were reduced spontaneously because of restauration of correct axes and length. Because of a simultaneous fracture of the coronoid process an above elbow plaster cast was supplied. Healing took place with free motion of all joints.

Adult↗