Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp

Ellis, Nathan A.; Ye, Tian Zhang; Patton, S.; German, James; Goodfellow, Peter N.; Weller, P A

doi:10.1038/ng0494-394

Cited by 80 publications

(52 citation statements)

References 37 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

203

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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

203

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“…Two types of CD99 molecules, a full-length protein (type I) and a short form (type II) harboring a deletion in the intracytoplasmic segment, are generated by alternative splicing (Ellis et al, 1994). Especially, the alternatively spliced form of CD99 transcripts (type II) are differentially expressed in a cell type specific manner among hematopoietic cells.…”

Section: Introductionmentioning

confidence: 99%

CD99 type II is a determining factor for the differentiation of primitive neuroectodermal cells

Lee

Lee²,

Park³

et al. 2003

Exp Mol Med

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“…The 32-kDa surface glycoprotein CD99 is highly expressed on cortical thymocytes, whereas it is moderately expressed on more differentiated cell types (Ellis et al, 1994). CD99 has been implicated in a number of cell-cell adhesion and cell activation phenomena.…”

Section: Introductionmentioning

confidence: 99%

Interaction between the mouse homologue of CD99 and its ligand PILR as a mechanism of T cell receptor-independent thymocyte apoptosis

et al. 2010

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Here, we show that the interaction between two membrane proteins, the mouse homologue of CD99 (designated D4) and its ligand, paired immunoglobulin-like type 2 receptor (PILR), is one of the major mechanisms of thymocyte apoptosis. Using the polymeric fusion protein of PILR and IgG1 (PILR-Ig), we demonstrated that D4 ligation in the absence of T cell receptor (TCR) engagement leads to the induction of apoptosis, mainly at the double-positive stage of thymocytes. This was further confirmed by a blocking study in which blocking the interaction between D4 and PILR by soluble D4 protein led to reduced apoptosis in the fetal thymic organ culture with wild type and TCRα -/-mice. Furthermore, the dissection of intracellular signaling pathway demonstrated that D4 cross-linking led to caspase activation without any change in mitochondrial membrane potential. Based on these data, we propose a mechanism for thymocyte depletion in which the interaction between D4 and PILR delivers an active signal.

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Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp

Cited by 80 publications

References 37 publications

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

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

CD99 type II is a determining factor for the differentiation of primitive neuroectodermal cells

Interaction between the mouse homologue of CD99 and its ligand PILR as a mechanism of T cell receptor-independent thymocyte apoptosis

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