Research Topics
Genomes and GenesSpecies | H Kehrer-SawatzkiSummaryAffiliation: University of Ulm Country: Germany Publications
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Publications
Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17Hildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
Am J Hum Genet 71:375-88. 2002..3) and GUC2D and ALOX15B (on human chromosome 17p13). The inversion affects neither the genomic structure nor the gene-activity state with regard to replication timing of these genes...- Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsTanja Mußotter
Institute of Human Genetics, University of Ulm, Albert Einstein Allee, Ulm, Germany
BMC Med Genet 13:98. 2012..ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing... - Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reportsJulia Vogt
Institute of Human Genetics, University of Ulm, Ulm, Germany
J Med Case Rep 5:577. 2011..abstract:.. 
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletionsHildegard Kehrer-Sawatzki
Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
Neurogenetics 13:229-36. 2012..We conclude that patients with mosaic type-2 NF1 microdeletions may also be at an increased risk of MPNSTs despite their generally milder disease manifestations as compared with germline type-1 NF1 microdeletions...- Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolutionClaus Kemkemer
Institute of Human Genetics, University of Ulm, Ulm, Germany
BMC Evol Biol 9:84. 2009..Gene synteny analysis (E-painting) not only greatly reduces the complexity of comparative genome sequence analysis but also extends its evolutionary reach... - Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?H Kehrer-Sawatzki
Dr H Kehrer Sawatzki, Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
J Med Genet 45:622-31. 2008.... - Comparative analysis of copy number variation in primate genomesH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
Cytogenet Genome Res 123:288-96. 2008.... - Molecular mechanisms of chromosomal rearrangement during primate evolutionHildegard Kehrer-Sawatzki
Institute of Human Genetics, University of Ulm, Ulm, Germany
Chromosome Res 16:41-56. 2008.... - Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted regionHildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
Am J Med Genet A 146:691-9. 2008..4 Mb interval do not identify a specific deleted region that is associated with increased neurofibroma growth... 
Structural divergence between the human and chimpanzee genomesHildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
Hum Genet 120:759-78. 2007....- Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisonsHildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
Hum Mutat 28:99-130. 2007..Here, we review recent progress in comparing the human and chimpanzee genomes and discuss how the differences detected have improved our understanding of the evolution of the human genome... - What a difference copy number variation makesHildegard Kehrer-Sawatzki
Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
Bioessays 29:311-3. 2007..However, some CNVs are already amenable to genome-wide association studies so that their influence on human phenotypic diversity and disease susceptibility may soon be determined... - High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 geneH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
Am J Hum Genet 75:410-23. 2004..Thus, NF1 microdeletions acquired during mitotic cell divisions differ from those occurring in meiosis and are caused by different mechanisms... - Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripesH Kehrer-Sawatzki
Abteilung Humangenetik, Universitat Ulm, Albert Einstein Allee 11, 89081, Ulm, Germany
Gene 222:145-53. 1998..This suggests that the human EVI2B gene and the Fugu gene in intron 27b have a common ancestor. We found the expression of this inserted gene in liver and kidney, but not in brain tissue of Fugu rubripes... - Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humansH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Germany
Cytogenet Genome Res 108:91-7. 2005..These findings coincide with the trend observed in hominoid karyotype evolution that humans have a karyotype close to an ancestral one, while African great apes present with more derived chromosome arrangements... - Characterization of three genes, AKAP84, BAW and WSB1, located 3' to the neurofibromatosis type 1 locus in Fugu rubripesH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081, Ulm, Germany
Gene 235:1-11. 1999..A higher overall similarity of deduced protein sequences between Fugu and mouse was observed comparing the BAW gene products (74.1%) and the WSB1 proteins (77.2%)... - Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regionsJ M Szamalek
Department of Human Genetics, University of Ulm, Ulm, Germany
Cytogenet Genome Res 116:53-60. 2007..The precise delineation of the inversion breakpoints may nevertheless still prove helpful in identifying potential speciation-relevant genes within the inverted regions... - Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomesJessica Kolb
Institute of Human Genetics, University of Ulm, Ulm, Germany
Chromosome Res 17:469-83. 2009.... - Recruitment of old genes to new functions: evidences obtained by comparing the orthologues of human XLMR genes in mouse and chickenM Kohn
Institut fur Humangenetik, Universitat Ulm, Ulm, Germany
Cytogenet Genome Res 116:173-80. 2007..Also in the testes, specific expression was only found in mouse, not in chicken. These data are interpreted such that certain genes on the X chromosome gained novel functions during evolution... - Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterpartsH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Germany
Gene 251:63-71. 2000..The characterization of the 5' flanking region presented here, together with that of the 3' region, demonstrates the profound differences between Fugu and human considering the gene content within the region flanking the NF1 gene... - Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2H Kehrer-Sawatzki
Abteilung Humangenetik, Ulm, Germany
Hum Genet 100:67-74. 1997..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... - A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?U Zechner
Dept Internal Medicine I, University Ulm, D 89081, Ulm, Germany
Trends Genet 17:697-701. 2001..We discuss these conclusions with regard to the conservation of the vertebrate X-chromosomal linkage group and to human evolution... - A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2Kathrin Bengesser
Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany
Hum Mutat 31:742-51. 2010..31 microdeletions and reciprocal microduplications. The novel NF1 microdeletions reported here provide further evidence for the unusually high recombinogenic potential of LRRC37-containing LCRs in the human genome... - Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric dG Barbi
Abteilung Humangenetik, Universitatsklinikum Ulm, Ulm, Germany
Am J Med Genet A 132:419-24. 2005..These observations suggest a multi-step origin of the marker most probably with ring formation as the first step... - Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromasKatharina Steinmann
Institute of Human Genetics, University of Ulm, Germany
J Invest Dermatol 129:615-21. 2009..To our knowledge, mitotic recombination has not previously been reported to be a frequent cause of LOH in plexiform neurofibromas... - Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?Angelika C Roehl
Institute of Human Genetics, University of Ulm, Ulm, Germany
Hum Mutat 31:325-34. 2010..012) in the type-2 deletion patients compared with controls. We postulate that roh1 may act remotely, via an as yet unknown mechanism, to increase the frequency of somatic recombination between the distally duplicated SUZ12 sequences... - Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literatureHildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Germany
Prenat Diagn 25:954-9. 2005..2-q26.1. The majority of distal 10q deletions are pure terminal deletions with breakpoints in 10q25 and 10q26. Only four patients have been described so far with interstitial deletions involving bands 10q25.2-q26.1... - Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9Hildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
Genomics 85:542-50. 2005..In addition to this pericentric inversion of PTR 11, further events like centromere repositioning or a second smaller inversion must be assumed to explain the structure of PTR 11 compared with HSA 9... - Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2Hildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081, Ulm, Germany
Hum Genet 116:466-75. 2005..This demonstrates the value of whole-body MRI scanning in determining the total tumor load, which is an important aspect in genotype/phenotype correlations with regard to large NF1 deletions... - Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)Hildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
Acta Neuropathol 104:231-40. 2002..These findings provide evidence of differential Krit1 and Rap1A expression during mouse ontogenesis and suggest a more widespread functional significance of Krit1, not restricted to vascular endothelial cells... - Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)Hildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
Hum Mutat 25:45-55. 2005..These findings imply that genomic architecture, and specifically high-copy repetitive elements, may have made a significant contribution to hominoid karyotype evolution, predisposing specific genomic regions to rearrangements... - A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2H Kehrer-Sawatzki
Abteilung Humangenetik, Universitat Ulm, Germany
Hum Genet 100:595-600. 1997..Our findings further support pericentromeric spreading of partial NF1 gene copies at chromosome 15q11.2 during evolution... - Monosomy 6 in human cultured fibroblast-like cells after long-term stimulation with acidic fibroblast growth factor (FGF1)W Krone
Abteilung Humangenetik, Universitat Ulm, Germany
Cytogenet Cell Genet 78:96-102. 1997..A selective advantage for such monosomic cells is the most likely explanation for their steady increase during serial culture... - Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor regionH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Ulm, Germany
J Med Genet 40:e116. 2003 - Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineagesClaus Kemkemer
Institute of Human Genetics, University of Ulm, Ulm, Germany
Chromosome Res 17:811-20. 2009.... - Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformationsB Glaser
Institute of Human Genetics, Gottingen, Germany
Am J Med Genet A 126:229-36. 2004..3, or RBM10) in the breakpoint region on the X chromosome is not well tolerated and leads to the selection of cells with an active non-rearranged X chromosome... - Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombinationKatharina Steinmann
Institute of Human Genetics, University of Ulm, Ulm, Germany
Am J Hum Genet 81:1201-20. 2007..Although an influence of chromatin structure was strongly suspected, no sex-specific differences in the methylation pattern exhibited by the SUZ12 gene were apparent that could explain the higher rate of mitotic recombination in females... - Localization of human X chromosomal mental retardation (MRX) genes in chicken and comparison with the chicken genome sequence dataM Kohn
Department of Human Genetics, University Ulm, Ulm, Germany
Cytogenet Genome Res 108:342-7. 2005..This result supports the hypothesis that the human X chromosome is a real ancient autosomal linkage group... - Expression pattern of the Rsk2, Rsk4 and Pdk1 genes during murine embryogenesisMatthias Kohn
Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, D 89081 Ulm, Germany
Gene Expr Patterns 3:173-7. 2003..For Rsk4 ubiquitous expression at lower levels was observed throughout development... - Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsKatharina Steinmann
Institute of Human Genetics, University of Ulm, Ulm, Germany
Eur J Hum Genet 16:572-80. 2008..This duplication could have occurred concomitantly with the deletion as part of a complex rearrangement or may alternatively have preceded the deletion... - Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouseDieter E Jenne
Department of Neuroimmunology, Max Planck Institute of Neurobiology, Martinsried, Germany
Genes Chromosomes Cancer 37:111-20. 2003.... - Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomaliesBirgitta Gläser
Department of Human Genetics, University of Ulm, Ulm, Germany
Am J Med Genet A 116:66-70. 2003..The deleted segment encompasses about 12.5 Mb between markers D12S1832 and G62375. The phenotypic consequences of the deletion are discussed and compared with other cases of interstitial deletions of proximal chromosome 12p... - Evolutionary and biomedical insights from the rhesus macaque genomeRichard A Gibbs
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
Science 316:222-34. 2007..The complete description of the macaque genome blueprint enhances the utility of this animal model for biomedical research and improves our understanding of the basic biology of the species... - Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genomeViolaine Goidts
Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081, Ulm, Germany
Hum Genet 120:270-84. 2006.... - Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primatesViolaine Goidts
Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany
Hum Genet 115:116-22. 2004..The assignment of the breakpoint region to a segmental duplication underlines the significance of the genomic architecture in the context of genome and karyotype evolution in hominoids... - Wide genome comparisons reveal the origins of the human X chromosomeMatthias Kohn
Department of Human Genetics, University of Ulm, D-89070 Ulm, Germany
Trends Genet 20:598-603. 2004..This enables surprising new insights into the origins of the mammalian X chromosome... - Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosomeJustyna M Szamalek
Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany
Hum Genet 117:168-76. 2005.... - Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16Violaine Goidts
Department of Human Genetics, University of Ulm, 89081 Ulm, Germany
Genome Res 15:1232-42. 2005..Thus, the most parsimonious interpretation is that the gorilla and chimpanzee homologs exhibit similar but nonidentical derived pericentric inversions, whereas HSA 16 represents the ancestral form among hominoids... - The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscusJustyna M Szamalek
Department of Human Genetics, University of Ulm, 89069 Ulm, Germany
Genomics 87:39-45. 2006..According to the chromosomal speciation theory the inversions themselves could have promoted human speciation... - Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzeesJustyna M Szamalek
Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany
Hum Genet 119:103-12. 2006..It is concluded that micro-inversions make a significant contribution to genomic variability in both humans and chimpanzees and inversion polymorphisms may be more frequent than previously realized... - Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridizationViolaine Goidts
Department of Human Genetics, University of Ulm, Albert Einstein Allee, 11, 89081 Ulm, Germany
Hum Genet 119:185-98. 2006..The association of human-specific copy number gains with chromosomal breakpoints emphasizes their potential importance in mediating karyotypic evolution as well as in promoting human genomic diversity... - Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriersSylwia Chocholska
Abteilung Humangenetik, Universitat Ulm, Ulm, Germany
Am J Med Genet A 140:604-10. 2006..Thus, the overall X inactivation pattern and inter-individual expression variability of the genes in distal Xp might be determinants of the phenotype associated with the deletion... - Reconstruction of a 450-My-old ancestral vertebrate protokaryotypeMatthias Kohn
Department of Human Genetics, University of Ulm, D-89070 Ulm, Germany
Trends Genet 22:203-10. 2006..Although the human karyotype is one of the most conserved in eutherians, it can no longer be considered highly conserved from a vertebrate-wide perspective... - Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apesJustyna M Szamalek
Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany
Hum Genet 120:126-38. 2006.... - Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionThomas De Raedt
Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
Nat Genet 38:1419-23. 2006..This apparent conservation of patterns of recombination hotspots in moderately diverged paralogous regions contrasts with recent evidence that these patterns are not conserved in less-diverged orthologous regions of chimpanzees... - Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting)Claus Kemkemer
Institute of Human Genetics, University Ulm, Albert-Einstein-Allee 11, 89070 Ulm, Germany
Chromosome Res 14:899-907. 2006..From there on 66 further interchromosomal rearrangements took place in the lineage leading to cattle and 61 further interchromosomal rearrangements in the lineage to dog... - Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A replyHildegard Kehrer-Sawatzki
Hum Genet 113:188-90. 2003 - Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutationKatharina Wimmer
Department of Human Genetics, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Austria
Pediatr Res 58:1265-8. 2005..Molecular genetic testing identified a novel NF1 mutation and, thus, enabled a confident NF1 diagnosis despite the unusual phenotypical presentation in this patient... - A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPasesMatthias Kohn
Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, Ulm 89081, Germany
Eur J Hum Genet 12:29-37. 2004.... - Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplicationHildegard Kehrer-Sawatzki
Hum Genet 111:465-7; author reply 468-9. 2002..2 as had been previously postulated. Rather, our findings suggest that there is one NF1 gene in the 17q11.2 region... - Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 geneLan Kluwe
Laboratory for Tumor Biology and Development Disorders, Department of Maxillofacial Surgery, University Hospital Hamburg Eppendorf, Hamburg, Germany
Hum Mutat 23:111-6. 2004..4% of the 500 unselected NF1 patients. Genotyping using multiple microsatellite markers may provide a simple, inexpensive, and efficient strategy for screening deletions of the NF1 gene, and can as well be applied for other large genes... - Childhood overgrowth in patients with common NF1 microdeletionsMiriam Spiegel
, Charit, , Berlin, Germany
Eur J Hum Genet 13:883-8. 2005..4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth...