An anthropoid-specific segmental duplication on human chromosome 1q22

Kuryshev, Vladimir; Vorobyov, Eugene; Zink, Dorothea; Schmitz, Jürgen; Rozhdestvensky, Timofey S.; Münstermann, Ewald; Ernst, Ute; Wellenreuther, Ruth; Moosmayer, Petra; Bechtel, Stephanie; Schupp, Ingo; Horst, Jürgen; Korn, Bernhard; Poustka, Annemarie; Wiemann, Stefan

doi:10.1016/j.ygeno.2006.02.002

Cited by 27 publications

(30 citation statements)

References 39 publications

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Section: Discussionmentioning

confidence: 98%

“…30 Surprisingly, this segmental duplication does not exist in rat, mouse, chicken, or zebrafish, suggesting that this duplication may be associated with more recent evolutionary events specific for anthropoid primates. 30 It has been known that human chromosome 1q22, where the GON4L gene is located, is amplified in several human cancer types, including ovarian and breast cancer, 48 sarcomas, 49 and hepatocellular carcinoma. 50,51 A more detailed study has further confirmed that 3 loci covered by YAC955E11, YAC876B11, and YAC945D5 within 1q21-q22 have the highest amplified copy number in 5 of the 10 hepatocellular carcinoma cases examined.…”

Section: Discussionmentioning

confidence: 98%

“…30 Sequence alignment reveals that there are several highly conserved regions ( Figure 5A; Figure S2). The first 3 conserved regions (CR-1, CR-2, and CR-3) share no obvious similarity to any of the known domains.…”

Section: The Udu Gene Encodes a Putative Transcriptional Modulatormentioning

confidence: 99%

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The zebrafish udu gene encodes a novel nuclear factor and is essential for primitive erythroid cell development

Liu

Osato

et al. 2007

Blood

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Hematopoiesis is a complex process which gives rise to all blood lineages in the course of an organism's lifespan. However, the underlying molecular mechanism governing this process is not fully understood. Here we report the isolation and detailed study of a newly identified zebrafish ugly duckling (Udu) mutant allele, Udu sq1 . We show that loss-of-function mutation in the udu gene disrupts primitive erythroid cell proliferation and differentiation in a cell-autonomous manner, resulting in red blood cell (RBC) hypoplasia. Positional cloning reveals that the Udu gene encodes a novel factor that contains 2 paired amphipathic ␣-helix-like IntroductionHematopoiesis in vertebrate occurs in 2 waves, primitive and definitive. [1][2][3] In the mouse, the primitive or embryonic wave of hematopoiesis occurs around embryonic day 7.5 in the yolk-sac blood island, and produces primitive erythrocytes and macrophages. 4,5 This primitive wave of hematopoiesis lasts for a transient period of a few days and is subsequently replaced by the definitive program. Murine definitive hematopoiesis is believed to originate from a distinctive region known as the aorta-gonad-mesonephros at embryonic days 7.5 to 8. 6,7 These definitive hematopoietic precursors, presumably the definitive hematopoietic stem cells, then migrate to the fetal liver, where they undergo rapid proliferation and differentiation, and finally colonize the bone marrow for adult hematopoiesis. In contrast to primitive hematopoiesis, the definitive hematopoietic program gives rise to all the mature blood cell types and remains active throughout the lifetime of the organism.In zebrafish, hematopoiesis also comprises both primitive and definitive programs and produces mature blood cell types similar to those found in mammals. 8,9 Zebrafish primitive erythropoiesis begins at the 4-somite stage as a pair of bilateral stripes in the posterior lateral mesoderm. 10 These stripes extend anteriorly and posteriorly, and then converge in the midline at the 20-somite stage to form the intermediate cell mass (ICM), where erythroid precursors further develop and enter the circulation by 24 to 26 hours after fertilization (hpf). 10,11 On the other hand, primitive myelopoiesis originates from the rostral blood island in the anterior lateral mesoderm at around the 10-somite stage and produces mainly macrophages and possibly some neutrophils. [12][13][14][15] Recent studies demonstrate that zebrafish definitive hematopoiesis initiates in the ventral wall of dorsal aorta between 26 and 48 hpf, 16,17 and then establishes the adult hematopoietic organ in the kidney by 5 days after fertilization (dpf). 11 The zebrafish mutant, ugly duckling (Udu tu24 ), was first isolated from the 1996 Tuebingen large-scale screen as a mutant defective in morphogenesis during gastrulation and tail formation. 18 In this article, we report the isolation and detailed study of a new udu allele, udu sq1 , as a mutant with a defect in blood cell development. Cell-cycle, cytologic, and transplantation analyses sho...

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 98%

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The zebrafish udu gene encodes a novel nuclear factor and is essential for primitive erythroid cell development

Liu

Osato

et al. 2007

Blood

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“…It would be worth exploring the usefulness of TSPYL2 for a serum marker of HCC. GON4L is a putative evolutionarily conserved transcription factor (49), but the functional significance of GON4L in cancer is not known.…”

Section: Discussionmentioning

confidence: 99%

Transcriptome analysis of hepatitis B virus-associated small hepatocellular carcinoma by serial analysis of gene expression

Kim

Lee²,

Park³

et al. 2009

Int J Oncol

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Abstract. Serial analysis of gene expression (SAGE) is a sequence-based tool that enables quantitative study of comprehensive gene expression profiles. In this study, we generated a SAGE library of hepatitis B virus (HBV)-associated small hepatocellular carcinoma (HCC) and compared it with libraries of normal liver and other organs in order to identify genes which are specifically expressed in HBV-associated small HCC. A total of 18,107 SAGE tags were obtained from the HCC SAGE library. Among the 7,405 unique tags, 240 were significantly overexpressed in HCC compared to normal liver. Seventeen genes were unequivocally matched to SAGE tags which were up-regulated 15-fold or higher in HCC compared to normal liver: four genes (fatty acid desaturase 2, ·-L-2-fucosidase, testis-specific protein Y-encoded-like 2 and Gon-4-like) were significantly overexpressed in the HCC SAGE library compared to any other SAGE libraries of human normal tissues. The significance of these genes with respect to carcinogenesis and early diagnosis of HCC needs to be elucidated in further studies.

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“…Blast searches in database revealed that the Udu protein had the highest homology to the human and mouse GON4L in both protein sequence and gene structure (Kuryshev et al, 2006;Liu et al, 2007). Caenorhabditis elegans gon-4, from which the name of the mammalian orthologue was derived, was identified as cell lineage regulator in gonadogenesis of Caenorhabditis elegans.…”

Section: Is Udu Coupled With Cell Cycle?mentioning

confidence: 99%

Udu Deficiency Activates DNA Damage Checkpoint

Lim

Chong

Jiang

2009

MBoC

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Udu has been shown to play an essential role during blood cell development; however, its roles in other cellular processes remain largely unexplored. In addition, ugly duckling (udu) mutants exhibited somite and myotome boundary defects. Our fluorescence-activated cell sorting analysis also showed that the loss of udu function resulted in defective cell cycle progression and comet assay indicated the presence of increased DNA damage in udu tu24 mutants. We further showed that the extensive p53-dependent apoptosis in udu tu24 mutants is a consequence of activation in the Atm-Chk2 pathway. Udu seems not to be required for DNA repair, because both wild-type and udu embryos similarly respond to and recover from UV treatment. Yeast two-hybrid and coimmunoprecipitation data demonstrated that PAH-L repeats and SANT-L domain of Udu interacts with MCM3 and MCM4. Furthermore, Udu is colocalized with 5-bromo-2 -deoxyuridine and heterochromatin during DNA replication, suggesting a role in maintaining genome integrity. INTRODUCTIONugly duckling (udu tu24 ) mutant was first isolated from the 1996 Tü bingen screen and has been shown to exhibit a short body-axis with massive cell death (Hammerschmidt et al., 1996). Another udu allele, udu sq1 , was isolated in a genetic screen aiming at mutants with defects in hematopoiesis (Liu et al., 2007). Positional cloning revealed that Udu protein encodes a novel nuclear factor consisting of three conserved regions (CR-1, CR-2, and CR-3) that do not share similarity with any known domains, two paired amphipathic ␣-helix like (PAH-L) repeats, and one putative SW13, ADA2, N-Cor and TFIIIB like (SANT-L) domain. The C-terminal PAH-L and SANT-L domains have been shown to be essential in primitive erythroid cell development (Liu et al., 2007). The PAH domain, first identified in yeast SIN3 (Wang et al., 1990), has been demonstrated to mediate protein-protein interactions (Spronk et al., 2000). SIN3 has no intrinsic DNA binding ability and has to be targeted to gene promoters by interacting with DNA binding proteins, thereafter positively and negatively regulating genes involved in diverse cellular functions (Silverstein and Ekwall, 2005). The SANT domain is a highly conserved motif with similarity to Myb DNA binding domain (Aasland et al., 1996), which has been shown to be critical in regulating chromatin accessibility (Boyer et al., 2002(Boyer et al., , 2004.The DNA damage response pathway is a cellular surveillance system that senses the presence of damaged DNA and elicits checkpoint activation and subsequent lesion repair in preventing amplification or loss of genes or chromosomes (Zhou and Elledge, 2000). The critical components of DNA damage checkpoint are two phosphatidyl inositol 3-kinaselike kinase family proteins: Ataxia telangiectasia mutated (ATM) and ATM-and Rad3-related (ATR) (Abraham, 2003;Shiloh, 2003). ATR functions as a sensor and transducer in response to UV light and presumably to genotoxic agents that give rise to stalled replication forks, and subsequently activates Checkp...

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An anthropoid-specific segmental duplication on human chromosome 1q22

Cited by 27 publications

References 39 publications

The zebrafish udu gene encodes a novel nuclear factor and is essential for primitive erythroid cell development

The zebrafish udu gene encodes a novel nuclear factor and is essential for primitive erythroid cell development

Transcriptome analysis of hepatitis B virus-associated small hepatocellular carcinoma by serial analysis of gene expression

Udu Deficiency Activates DNA Damage Checkpoint

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