PBDX is the XG blood group gene

Ellis, Nathan A.; Tippett, Patricia; Petty, A. C.; Reid, Marion E.; Weller, P A; Ye, Tian Z.; German, James; Goodfellow, Peter N.; Thomas, Stephen G.; Banting, George

doi:10.1038/ng1194-285

Cited by 65 publications

(46 citation statements)

References 32 publications

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“…[93,94] In the case of the PAR2 region, 4 genes have been identified to date: SPRY3, SYBL1, IL9R and CXYorf1. Of these, only SYBL1 and IL9R have a known function, and these, together with SHOX from the PAR1, are discussed below.…”

Section: Ant3 Ant3y Mgc17525mentioning

confidence: 99%

The Human Pseudoautosomal Region (PAR): Origin, Function and Future

Mangs¹,

Morris

2007

193

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Abstract:The pseudoautosomal regions (PAR1 and PAR2) of the human X and Y chromosomes pair and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex-linked fashion. PAR1 is located at the terminal region of the short arms and PAR2 at the tips of the long arms of these chromosomes. To date, 24 genes have been assigned to the PAR1 region. Half of these have a known function. In contrast, so far only 4 genes have been discovered in the PAR2 region. Deletion of the PAR1 region results in failure of pairing and male sterility. The gene SHOX (short stature homeobox-containing) resides in PAR1. SHOX haploinsufficiency contributes to certain features in Turner syndrome as well as the characteristics of Leri-Weill dyschondrosteosis. Only two of the human PAR1 genes have mouse homologues. These do not, however, reside in the mouse PAR1 region but are autosomal. The PAR regions seem to be relics of differential additions, losses, rearrangements and degradation of the X and Y chromosome in different mammalian lineages. Marsupials have three homologues of human PAR1 genes in their autosomes, although, in contrast to mouse, do not have a PAR region at all. The disappearance of PAR from other species seems likely and this region will only be rescued by the addition of genes to both X and Y, as has occurred already in lemmings. The present review summarizes the current understanding of the evolution of PAR and provides up-to-date information about individual genes residing in this region. THE X AND Y CHROMOSOMESThe human sex chromosomes (X and Y) originate from an ancestral homologous chromosome pair, which during mammalian evolution lost homology due to progressive degradation of the Y chromosome [1]. The X-chromosome in placental mammals represents approximately 5% of the haploid genome and the gene content is almost completely conserved amongst species. To ensure dosage compensation, most genes on the X are subject to X inactivation in females. The Y chromosome is much smaller than the X, being only 2-3% of the haploid genome, and is largely composed of repeated sequences. Most genes on the Y have relatives on the X chromosome and these are not subject to X inactivation. The degeneration of the Y chromosome has been researched and reviewed extensively [2][3][4][5][6]. THE PSEUDOAUTOSOMAL REGIONSThe pseudoautosomal regions (PAR1 and PAR2) are short regions of homology between the mammalian X and Y chromosomes. The PAR behave like an autosome and recombine during meiosis. Thus genes in this region are inherited in an autosomal rather than a strictly sex-linked fashion.PAR1 comprises 2.6 Mb of the short-arm tips of both X and Y chromosomes in humans and other great apes [7,8] and is required for pairing of the X and Y chromosomes during male meiosis. All characterized genes within PAR1 escape X inactivation. X-Y pairing in the PAR is thought to serve a critical function in spermatogenesis, at least in humans and mouse [9][10][11]. PAR2 is located at the tips of the long arms and is a much shor...

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Section: Ant3 Ant3y Mgc17525mentioning

confidence: 99%

The Human Pseudoautosomal Region (PAR): Origin, Function and Future

Mangs¹,

Morris

2007

193

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“…Transfectants were selected with 1 mg/mL neomycin and analyzed by phycoerythrin (PE)-conjugated Xg staining using FACScan (Becton Dickinson). The NBL-1 hybridoma (Anti-Xg) was generated and validated by Ellis and colleagues (24). This clone has also been validated by Fouchet and colleagues (28,29).…”

Section: Methodsmentioning

confidence: 99%

“…The Xg protein was initially characterized on RBC and defines a blood group (24). Studies into families revealed a difference in the Xg(+) frequency according to gender.…”

Section: Introductionmentioning

confidence: 99%

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Xg Expression in Ewing's Sarcoma Is of Prognostic Value and Contributes to Tumor Invasiveness

Meynet¹,

Scotlandi

Pradelli³

et al. 2010

Cancer Research

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Ewing's sarcoma (EWS) is an aggressive tumor of children and young adults that requires intensive treatment. The search for new prognostic factors is very important to choose the most appropriate therapy and to better understand the biology of the disease for the development of new therapeutic tools. We found that Xg, a thus far poorly described molecule and member of the CD99 family, is expressed in EWS cell lines and EWS primary tumors. Immunohistochemical analysis confirmed the expression of Xg in 24% of patients. We found that Xg expression in EWS defines a subgroup of patients with worse prognosis compared with those with Xgnegative localized tumors, indicating a clinical relevance of Xg expression in EWS. Forced expression of Xg in an EWS cell line upregulated cell migration and invasion in vitro. Furthermore, knockdown of Xg expression with specific short hairpin RNA significantly reduced migration and invasion of EWS cells. Consistent with these data, in vivo xenotransplant studies in nude mice revealed that Xg expression increased the incidence and the number of metastases of EWS cells. Thus, Xg expression is associated with lower overall survival in EWS patients with localized tumors and is implicated in metastasis. Cancer Res; 70(9); 3730-8. ©2010 AACR.

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“…This molecule is highly oglycosylated and together with Xga and CD99 L2 constitutes a family of molecules that show no homology to any other known family [21][22][23][24][25][26]. The mRNA of CD99 is expressed as two isoforms, a long form of 185 amino acids (CD99LF) and a short form of 161 amino acids (CD99SF) obtained by alternative splicing of the cytoplasmic region [27].…”

Section: Introductionmentioning

confidence: 99%

CD99 isoforms regulate CD1a expression in human monocyte‐derived DCs through ATF‐2/CREB‐1 phosphorylation

et al. 2016

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CD1a expression is considered one of the major characteristics qualifying in vitro human dendritic cells (DCs) during their generation process. Here, we report that CD1A transcription is regulated by a mechanism involving the long and short isoforms of CD99. Using a lentiviral construct encoding for a CD99 short hairpin RNA, we were able to inhibit CD99 expression in human primary DCs. In such cells, CD1a membrane expression increased and CD1A transcripts were much higher in abundance compared to cells expressing CD99 long form (CD99LF). We also show that CD1A transcription is accompanied by a switch in expression from CD99LF to expression at comparable levels of both CD99 isoforms during immature DCs generation in vitro. We demonstrate that CD99LF maintains a lower level of CD1A transcription by up-regulating the phosphorylated form of the ATF-2 transcription factor and that CD99 short form (SF) is required to counteract this regulatory mechanism. Elucidation of the molecular mechanisms related to CD99 alternative splicing will be very helpful to better understand the transcriptional regulatory mechanism of CD1a molecules during DCs differentiation and its involvement in the immune response.Keywords: alternative splicing-ATF2-CREB1 r CD99 r Dendritic cells r Nonclassical MHC Additional supporting information may be found in the online version of this article at the publisher's web-site IntroductionPresentation of foreign antigens in the form of proteins or lipids solicits specialized molecular complexes carried by dendritic cells (DCs). The molecules of the classical and nonclassical major Correspondence: Dr. Ghislaine Bernard e-mail: bernardg@unice.fr histocompatibility complex (MHC) class I present antigens to T cells and these two families of molecules have very similar structures [1][2][3].Among the nonclassical MHC molecules is the CD1 family of molecules that assures the presentation of lipid and glycolipid † Deceased C 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim www.eji-journal.eu Eur. J. Immunol. 2016. 46: 1460-1471 Immunomodulation 1461 antigens [4,5]. This family consists of five genes, including CD1A, B, C, D and E. The first four give rise to cell surface proteins CD1a, CD1b, CD1c, CD1d that are able to present the antigens, while the gene CD1E codes for the cytoplasmic protein CD1e [6][7][8]. CD1a is expressed on the membranes of thymocytes, dermal DCs and Langerhans cells, and allows distinction between subpopulations of DCs. No such equivalent has been reported in mice [8].CD1a is expressed during generation of DCs derived from monocytes when cultured in the presence of GMCSF and IL4 in vitro [9]. Two subpopulations of immature DCs (iDCs), i.e. CD1a high and CD1a low DCs, are produced in these conditions [10,11]. In addition to their phenotypic differences, these cells show functional differences, in particular in terms of secretion of cytokines. In contrast to CD1a high DCs, CD1a low DCs produce low amounts of IL12 but produce high amounts of IL10. This profile of cytokines impacts on the f...

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PBDX is the XG blood group gene

Cited by 65 publications

References 32 publications

The Human Pseudoautosomal Region (PAR): Origin, Function and Future

The Human Pseudoautosomal Region (PAR): Origin, Function and Future

Xg Expression in Ewing's Sarcoma Is of Prognostic Value and Contributes to Tumor Invasiveness

CD99 isoforms regulate CD1a expression in human monocyte‐derived DCs through ATF‐2/CREB‐1 phosphorylation

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