共查询到20条相似文献,搜索用时 15 毫秒
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Homozygotes for six autosomal paracentric inversions, an inserted paracentric inversion, an autosomal translocation, and two X-chromosome-chromosome 3 translocations in Anopheles stephensi are described. Three of these aberrations are being maintained in pure strains without the necessity of selection. 相似文献
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Homozygous mouse embryos produced by microsurgery 总被引:5,自引:0,他引:5
Homozygous mouse blastocysts have been produced following microsurgical removal of one pronucleus from the fertilized egg, diploidization in cytochalasin B, and culture in vitro. This combination of techniques should greatly shorten the time required to obtain homozygous strains of mice. 相似文献
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Guntram Borck Liat de Vries Hsin-Jung Wu Pola Smirin-Yosef Gudrun Nürnberg Irina Lagovsky Luis Henrique Ishida Patrick Thierry Dagmar Wieczorek Peter Nürnberg John Foley Christian Kubisch Lina Basel-Vanagaite 《Human genetics》2014,133(8):1041-1047
Athelia is a very rare entity that is defined by the absence of the nipple–areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp–ear–nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two branches of an extended consanguineous Israeli Arab family, a girl and two boys, who presented with a spectrum of nipple anomalies ranging from unilateral hypothelia to bilateral athelia but no other consistently associated anomalies except a characteristic eyebrow shape. Using homozygosity mapping after single nucleotide polymorphism (SNP) array genotyping and candidate gene sequencing we identified a homozygous frameshift mutation in PTPRF as the likely cause of nipple anomalies in this family. PTPRF encodes a receptor-type protein phosphatase that localizes to adherens junctions and may be involved in the regulation of epithelial cell–cell contacts, peptide growth factor signaling, and the canonical Wnt pathway. Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple–areola region. 相似文献
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《Endocrine practice》2014,20(10):e198-e201
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As a model system for vertebrate transgenesis, fish have many attractive advantages, especially with respect to the characteristics of eggs, allowing us to produce isogenic, transgenic, homozygous vertebrates by combining with chromosome-set manipulation. Here, we describe the large-scale production of isogenic transgenic homozygous animals using our experimental organism, the mud loach Misgurnus mizolepis, by the simple process of artificial parthenogenesis in a single generation. These isogenic fish have retained transgenic homozygous status in a stable manner during the subsequent 5 years, and exhibited increased levels of transgene expression. Furthermore, their isogenic nature was confirmed by cloned transgenic homozygous offspring produced via another step of parthenogenic reproduction of the isogenic homozygous transgenic fish. These results demonstrate that a combination of transgenesis and artificial parthenogenesis will make the rapid utilization of genetically pure homozygous transgenic system in vertebrate transgenesis possible. 相似文献
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Rayla Greenberg Temin 《Genetics》1966,53(1):27-46
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Homozygous osteogenesis imperfecta unlinked to collagen I genes 总被引:4,自引:1,他引:3
Katherine Aitchison Donald Ogilvie Mary Honeyman Elizabeth Thompson Bryan Sykes 《Human genetics》1988,78(3):233-236
Summary In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus. 相似文献
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Nadja Ehmke Almuth Caliebe Rainer Koenig Sarina?G. Kant Zornitza Stark Valérie Cormier-Daire Dagmar Wieczorek Gabriele Gillessen-Kaesbach Kirstin Hoff Amit Kawalia Holger Thiele Janine Altmüller Bj?rn Fischer-Zirnsak Alexej Knaus Na Zhu Verena Heinrich Celine Huber Izabela Harabula Malte Spielmann Denise Horn Uwe Kornak Jochen Hecht Peter?M. Krawitz Peter Nürnberg Reiner Siebert Hermann Manzke Stefan Mundlos 《American journal of human genetics》2014,95(6):763-770
Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs∗22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism. 相似文献
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C. Rockman-Greenberg M. Ray J. A. Evans N. Canning J. L. Hamerton 《Human genetics》1982,61(3):181-184
Summary We report the unique finding of a human fetus with 44 chromosomes with homozygous 14;21 translocations. This fetus appeared phenotypically normal but the long-term neurodevelopmental outcome had this pregnancy continued could not be predicted. We speculate one 14;21 translocation was inherited from her father and one arose de novo being maternal in origin. A previous sibling with psychomotor retardation has an abnormal chromosome complement of 45,XX,dup(7)(q21pter), t(14;21)(p11;q11). The mother's underlying disease, systemic lupus erythematosis (SLE), and her prior chemotherapy may have contributed to the appearance of these chromosome aberrations. It is interesting that although 14;21 translocations are among the commonest structural chromosome rearrangements in man, there are no previous reports in newborn surveys of a child with 44 chromosomes resulting from the mating of two identical Robertsonian translocation carrier parents. 相似文献
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Phosphatidylcholine transfer protein (PC-TP) is a cytosolic phospholipid binding protein and a member of the steroidogenic acute regulatory-related transfer domain superfamily. Its tissue distribution includes liver and macrophages. PC-TP regulates hepatic lipid metabolism, and its absence in cholesterol-loaded macrophages is associated with reduced ATP binding cassette transporter A1-mediated lipid efflux and increased susceptibility to apoptosis induced by unesterified cholesterol. To explore a role for PC-TP in atherosclerosis, we prepared PC-TP-deficient/apolipoprotein E-deficient (Pctp(-/-)/Apoe(-/-)) mice and littermate Apoe(-/-) controls. At 16 weeks, atherosclerosis was increased in chow-fed male, but not female, Pctp(-/-)/Apoe(-/-) mice. This effect was associated with increases in plasma lipid concentrations. By contrast, no differences in atherosclerosis were observed between male or female Pctp(-/-)/Apoe(-/-) mice and Apoe(-/-) controls fed a Western-type diet for 16 weeks. At 24 weeks, atherosclerosis in chow-fed male Pctp(-/-)/Apoe(-/-) mice tended to be reduced in proportion to plasma cholesterol. The attenuation of atherosclerosis in female Pctp(-/-)/Apoe(-/-) mice fed chow or the Western-type diet for 24 weeks was not attributable to changes in plasma cholesterol or triglyceride concentrations. These findings suggest that PC-TP modulates the development of atherosclerosis, in part by regulating plasma lipid concentrations. 相似文献
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The viability of cells made homozygous for different deficiencies by induced mitotic recombination was examined. The deficiencies varied in length from two to 30 polytene chromosome bands and were distributed over the five major chromosome arms. Among a sample of 30, ten deficiencies were cell viable. Our results show that 12% of the genome is necessary for cell survival, supporting previous estimates of about 5,000 genes in the genome of Drosophila. 相似文献
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Charlotte Mouden Marie de Tayrac Christèle Dubourg Sophie Rose Wilfrid Carré Houda Hamdi-Rozé Marie-Claude Babron Linda Akloul Bénédicte Héron-Longe Sylvie Odent Valérie Dupé Régis Giet Véronique David 《PloS one》2015,10(2)
Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been identified in HPE patients that account for only 30% of HPE cases, suggesting the existence of other HPE genes. Data from homozygosity mapping and whole-exome sequencing in a consanguineous Turkish family were combined to identify a homozygous missense mutation (c.2150G>A; p.Gly717Glu) in STIL, common to the two affected children. STIL has a role in centriole formation and has previously been described in rare cases of microcephaly. Rescue experiments in U2OS cells showed that the STIL p.Gly717Glu mutation was not able to fully restore the centriole duplication failure following depletion of endogenous STIL protein indicating the deleterious role of the mutation. In situ hybridization experiments using chick embryos demonstrated that expression of Stil was in accordance with a function during early patterning of the forebrain. It is only the second time that a STIL homozygous mutation causing a recessive form of HPE was reported. This result also supports the genetic heterogeneity of HPE and increases the panel of genes to be tested for HPE diagnosis. 相似文献