Disease relevance of RBM

• In order to search for mutations in the multicopy RBM genes that might be associated with male infertility, we have used sequence data from the reported cDNA clone to determine the intron exon boundaries of the YRRM 1 gene [1].
• Deletion of RBM and DAZ in azoospermia: evaluation by PRINS [2].
• From these results, it seems that the X-chromosome, through its RBM genes, plays a formerly unknown role in the regulation of programmed cell death (apoptosis) in breast cancer [3].
• RBM-registration of meningococcal, haemophilus and pneumococcal meningitis was 20% lower than SMR [4].
• During the period 1977-1982 we compared the notifications of meningococcal meningitis, diagnoses on discharge from hospital of all causes of BM (Stichting Medische Registratie, Medical Registration Foundation; SMR) and bacteriological data (Netherlands Reference Laboratory for Bacterial Meningitis; RBM) [4].

High impact information on RBM

• Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm [5].
• The distribution of RBM protein in the adult correlates with the pattern of transcriptional activity in spermatogenesis, suggesting that RBM is involved in the nuclear metabolism of newly synthesized RNA [5].
• In the absence of detectable RBM expression we see stages of germ cell development up to early meiosis, but not past this point into the haploid phase of spermatogenesis [5].
• We conclude that the hnRNP G family of proteins is involved in pre-mRNA splicing and infer that RBM may be involved in Tra2beta-dependent splicing in spermatocytes [6].
• RBM and Tra2beta co-localize in two major domains in human spermatocyte nuclei [6].

Biological context of RBM

• Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene [1].
• We have used PCR followed by SSCP analysis to map RBM on a Y Chromosome (Chr) YAC contig and have demonstrated a distribution that spans a major part of this chromosome's euchromatin [1].
• Incubation with the protein interaction domain of RBM inhibited splicing in vitro of a specific pre-mRNA substrate containing an essential enhancer bound by Tra2beta [6].
• Moreover, pre-mRNA splicing components are targeted to the same punctate nuclear regions as RBM during the early stages of germ cell development but late in meiosis this spatial association breaks down [7].
• The second strategy used subcloning of the YAC clone 925D10 (that contained the RBM gene described here) into cosmids [8].

Anatomical context of RBM

• We show here that RBM, hnRNP G and a novel testis-specific relative, termed hnRNP G-T, interact with Tra2beta, an activator of pre-mRNA splicing that is ubiquitous but highly expressed in testis [6].
• The authors analyzed the expression of the RBM gene in germ cell tumors and in the seminiferous tubules in the vicinity of these tumors to identify the presence of IGCN [9].
• We examined the effect of three different subcellular matrices, plastic, type I collagen, and reconstituted basement membrane-like material (RBM), on the synthesis of sulfated glycosaminoglycans by cultured IMR-90 human lung fibroblasts [10].
• These findings highlight the intrinsic interpretative difficulties of normal PCR analysis for DAZ and RBM on leukocytes and suggest caution in the use of germ cells for assisted reproductive techniques in these cases to avoid transmission of genetic abnormalities to male offspring [11].
• However, on gels (3-dimensional substrata) reconstituted from a basement membrane extract (RBM), PC12 cells attach extending short processes transiently and within one day, form networks of small aggregates interconnected by process-bearing cells [12].

Associations of RBM with chemical compounds

• Five types of surface treatments, namely sintered microspheres porous titanium (porous Ti), titanium plasma spray (TPS), hydroxyapatite (HA), sandblasted and acid etched (SBAE), and resorbable blast medium, sandblasted with hydroxyapatite (RBM) were made [13].

Other interactions of RBM

• In all, 39 potential exons were isolated, including 2 exons from the DAZ gene, 3 exons from the BPY2 gene, 2 exons from the PRY gene, and 1 exon from a member of the RBM II gene family; all these genes have been shown previously to map to the AZFc region [14].
• One patient, who was previously shown to be azoospermia factor region (AZF)b deleted, lacked RBM mRNA and presented with reduced amplification of protamine-2 mRNA [15].
• While pre-mRNA splicing components undergo profound spatial reorganisations during spermatogenesis, neither heterogeneous ribonucleoproteins nor the transcription factor Sp1 show either developmental spatial reorganisations or any specific co-localisation with RBM [7].
• We analysed, by reverse transcription-polymerase chain reaction (RT-PCR), the expression of DAZ, RBM and SRY genes, in testicular cells from infertile men affected by idiopathic severe hypospermatogenesis, obstructive azoospermia and Sertoli cell-only syndrome [11].
• These results disclosed a wide Y long arm deletion, including all hypothized Yq azoospermia loci (except for AZFa and probably for one of the RBM genes, which lie proximally to the deletion) and possibly the Y-specific growth control region (GCY), mapped between DYS11 and DYS246 loci [16].

Analytical, diagnostic and therapeutic context of RBM

• Whereas the RT-PCR clones pointed to the existence of at least six RBM subfamilies (RBMI to RBMVI), the cDNA clones indicated that only RBMI is actively transcribed and encodes functional proteins [17].
• High-resolution fluorescence in situ hybridization of RBM- and TSPY-related cosmids on released Y chromatin in humans and pygmy chimpanzees [18].

References