Abstract:
:Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a natural ligand for HIV-1 co-receptor CCR5, is a potent HIV-1-suppressive chemokine. CCL3L1 copy number variation (CNV) is tightly linked to HIV-1/AIDS susceptibility, and a lower copy number is associated with an enhanced risk for acquiring HIV-1 and also progressing more rapidly to AIDS and death. In this article we review recent studies to evaluate the association between the CCL3L1 copy number and HIV-1/AIDS susceptibility.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Nakajima T,Kaur G,Mehra N,Kimura Adoi
10.1159/000184703subject
Has Abstractpub_date
2008-01-01 00:00:00pages
156-60issue
1-4eissn
1424-8581issn
1424-859Xpii
000184703journal_volume
123pub_type
杂志文章,评审abstract::Most human cancers are characterized by genomic instability. Changes associated with such may result in altered expression of numerous genes. The sequence information available in the public databases can be used to identify transcripts differentially expressed in cancers. Determining cancer-related genes that are com...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000087513
更新日期:2006-01-01 00:00:00
abstract::The catarrhine primates were the first group of species studied with comparative molecular cytogenetics. Many of the fundamental techniques and principles of analysis were initially applied to comparisons in these primates, including interspecific chromosome painting, reciprocal chromosome painting and the extensive u...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000339381
更新日期:2012-01-01 00:00:00
abstract::Geckos (Gekkota) are a highly diversified group of lizards with an exceptional diversity in sex-determining systems. Despite this intriguing documented variability, data on sex determination in many lineages is still scarce. Here, we document the previously overlooked heteromorphic ZZ/ZW sex chromosomes in the thick-t...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000358847
更新日期:2014-01-01 00:00:00
abstract::Hordeum chilense Roem. et Schult. has a number of characteristics interesting for breeding: high crossability with other Triticeae, resistance to biotic and abiotic stresses and high variability for quality traits such as endosperm storage proteins or carotenoid content. xTritordeum, the amphiploids between H. chilens...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000082423
更新日期:2005-01-01 00:00:00
abstract::Gross chromosomal rearrangements and aneuploidy are among the most common somatic genomic abnormalities that occur during cancer initiation and progression, in particular in human solid tumor carcinogenesis. The loss of large chromosomal regions as consequence of gross rearrangements (e.g. deletions, monosomies, unbal...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000072844
更新日期:2003-01-01 00:00:00
abstract::The DDX4/VASA gene plays an important role in germ cell development in animals. We cloned and characterized a marsupial DDX4/VASA homolog (TvDDX4, 2,769 bps) from the possum and examined its expression in adult tissues at mRNA and protein levels. The isolated cDNA had a deduced 704 amino acid residues with significant...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000266170
更新日期:2009-01-01 00:00:00
abstract::Fanconi anemia (FA) cells are generally hypersensitive to DNA cross-linking agents, implying that mutations in the different FANC genes cause a similar DNA repair defect(s). By using a customized cDNA microarray chip for DNA repair- and cell cycle-associated genes, we identified three genes, cathepsin B (CTSB), glutar...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000124375
更新日期:2008-01-01 00:00:00
abstract::Interspaced repetitive DNA elements and segmental duplications have been extensively analyzed in fishes through physical chromosome mapping methods, providing a better comprehension of the structure and organization of the genome of this group. In order to contribute to this scenario, a sequence integration study of d...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000353845
更新日期:2013-01-01 00:00:00
abstract::The suborder Serpentes is divided into 2 infraorders, Scolecophidia and Alethinophidia, which diverged at an early stage of snake diversification. In this study, we examined karyotypes of 4 scolecophidian species (Letheobia simonii, Xerotyphlops vermicularis, Indotyphlops braminus, and Myriopholis macrorhyncha) and pe...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000496554
更新日期:2019-01-01 00:00:00
abstract::The formation of heterochromatin begins in the differentiating cells. The aim of this work was to study changes of satellite DNA distribution, transcriptional activity and interaction with certain proteins in mouse embryonic stem cells after induction with retinoic acid. We found that pericentromeric satellites entere...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000218132
更新日期:2009-01-01 00:00:00
abstract::Microdeletions of 3q29 have previously been reported, but the postulated reciprocal microduplication has only recently been observed. Here, cases from four families, two ascertained in Toronto (Canada) and one each from Edinburgh (UK) and Leiden (Netherlands), carrying microduplications of 3q29 are presented. These fa...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000184693
更新日期:2008-01-01 00:00:00
abstract::The genus Hypostomus has a broad geographic distribution in Brazilian rivers and comprises armored catfishes with a very complicated taxonomy due to the absence of morphological autapomorphies. The existence of nearly 10 allopatric populations with different karyotypes suggests that Hypostomusancistroides represents a...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000492959
更新日期:2018-09-28 00:00:00
abstract::In birds, females are heterogametic (ZW), while males are homogametic (ZZ). It has been proposed that there is no dosage compensation for the expression of Z-linked genes in birds. In order to examine if the genes are inactivated on one of the two Z chromosomes, we analyzed the allelic expression of the B4GALT1 and CH...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000071609
更新日期:2002-01-01 00:00:00
abstract::Chromosome homologies in reptiles have been investigated extensively by gene mapping and chromosome painting. Relative chromosome size can be estimated roughly from conventional karyotypes, but chromosome GC content cannot be evaluated by any of these approaches. However, GC content can be obtained by whole-genome seq...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000497265
更新日期:2019-01-01 00:00:00
abstract::The INRA and the CHORI-241 horse BAC libraries were screened by hybridization with DNA probes and/or directly by PCR with primers designed in consensus sequences of genes localized at the end of each human chromosome. BAC clones were retrieved and 36 could be FISH mapped after the expected gene was confirmed in each B...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000085669
更新日期:2005-01-01 00:00:00
abstract::The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in ho...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000106441
更新日期:2007-01-01 00:00:00
abstract::It is widely accepted that the H2AX histone in its phosphorylated form (gamma-H2AX) is related to the repair of DNA double-strand breaks (DSBs). In several organisms, gamma-H2AX presence has been demonstrated in meiotic processes such as recombination and sex chromosome inactivation during prophase I (from leptotene t...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000100416
更新日期:2007-01-01 00:00:00
abstract::Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray an...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000445853
更新日期:2016-01-01 00:00:00
abstract::We have made a set of chromosome-specific painting probes for the American mink by degenerate oligonucleotide primed-PCR (DOP-PCR) amplification of flow-sorted chromosomes. The painting probes were used to delimit homologous chromosomal segments among human, red fox, dog, cat and eight species of the family Mustelidae...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000063032
更新日期:2002-01-01 00:00:00
abstract::Correct imprinting is crucial for normal fetal and placental development in mammals. Experimental evidence in animal models and epidemiological studies in humans suggest that assisted reproductive technologies (ARTs) can interfere with imprinted gene regulation in gametogenesis and early embryogenesis. Bos taurus is a...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000322627
更新日期:2011-01-01 00:00:00
abstract::RNA interference (RNAi) refers to the selective degradation of mRNA induced by double-stranded RNA (dsRNA), first discovered in Caenorhabditis elegans. Homology-dependent silencing phenomena related to RNAi have been observed in many species from all eukaryotic kingdoms. RNAi and related mechanisms share several conse...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000078215
更新日期:2004-01-01 00:00:00
abstract::18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells rev...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000487371
更新日期:2018-01-01 00:00:00
abstract::We analyzed the DNA amount in X and B chromosomes of 2 XX/X0 grasshopper species (Eyprepocnemis plorans and Locusta migratoria), by means of Feulgen image analysis densitometry (FIAD), using previous estimates in L. migratoria as standard (5.89 pg). We first analyzed spermatids of 0B males and found a bimodal distribu...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000324690
更新日期:2011-01-01 00:00:00
abstract::Since the discovery of SRY/SRY as a testis-determining gene on the mammalian Y chromosome in 1990, extensive studies have been carried out on the immediate target of SRY/SRY and genes functioning in the course of testis development. Comparative studies in non-mammalian vertebrates including birds have failed to find a...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000071599
更新日期:2002-01-01 00:00:00
abstract::Uniparental chromosome elimination occurs in several interspecific hybrids of plants. We studied the mechanism underlying selective elimination of the paternal chromosomes during the development of Hordeum vulgare x H. bulbosum hybrid embryos that is restricted to an early stage of development. In almost all embryos m...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000093334
更新日期:2006-01-01 00:00:00
abstract::A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil ((Aparasphenodon brunoi, Corythomantis greeningi, Osteocephalus langsdorffii, and Scinax fuscovarius) using Giemsa staining, BrdU replication banding, Ag-NOR staining, C-banding, DAPI and CMA(3) fluorochrome staining, and fluores...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000076304
更新日期:2003-01-01 00:00:00
abstract::2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial app...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000452090
更新日期:2016-01-01 00:00:00
abstract::To define the process of karyotypic evolution in the Galliformes on a molecular basis, we conducted genome-wide comparative chromosome painting for eight species, i.e. silver pheasant (Lophura nycthemera), Lady Amherst's pheasant (Chrysolophus amherstiae), ring-necked pheasant (Phasianus colchicus), turkey (Meleagris ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000078570
更新日期:2004-01-01 00:00:00
abstract::Unbalanced whole-arm translocations (WATs) of the long arm of chromosome 1, resulting in complete trisomy 1q, are chromosomal abnormalities detectable in both solid tumors and hematologic neoplasms. Among the WATs of 1q to acrocentric chromosomes, a few patients with der(1;15) described as a dicentric chromosome have ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000338437
更新日期:2012-01-01 00:00:00
abstract::Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) b...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000501381
更新日期:2019-01-01 00:00:00