Disease relevance of RBMY1H

• Expression of the RBMY1A, RBMY1H and RBMII genes was lacking in all prostate cancer cell lines but after demethylation the expression of all 3 was restored in the ND1, DU-145 and LNCaP cell lines [1].
• This study used a reliable and sensitive methodology to identify the presence of Y chromosome material in TS patients thus providing not only a better estimate of a patient's risk in developing either gonadoblastoma or another form of gonadal tumor but also the overall incidence of cryptic Y mosaicism [2].
• The search for Y specific sequences and for the gene families RNA binding motif (RBM) and deleted in azoospermia (DAZ) have been introduced in many laboratories [3].
• To determine the possible relationship of VCY2 with the pathogenesis of male infertility, we examined a group of infertile men with and without Y-chromosome microdeletions and with known testicular pathology using VCY2 antibody [4].
• Using a semiquantitative reverse transcription-polymerase chain reaction (RT-PCR) procedure, we had examined the expression of the Y chromosome genes in a panel of prostate samples diagnosed with benign prostatic hyperplasia (BPH), low and/or high grade carcinoma, and the prostatic cell line, LNCaP, stimulated by androgen treatment [5].

Psychiatry related information on RBMY1H

• In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, short stature, dysmorphic features, and Charcot-Marie-Tooth disease type 1A (CMT1A) [6].

High impact information on RBMY1H

• Suppression of recombination between ancestral proto-X and proto-Y chromosomes is thought to have led to their gradual divergence, and to degeneration of the Y chromosome, but the evolutionary forces responsible are unknown [7].
• Sex chromosomes have evolved independently in several different groups of organisms, but they share common features, including genetic degeneration of the Y chromosome [7].
• Low variability in a Y-linked plant gene and its implications for Y-chromosome evolution [7].
• A1s9X is similar to the Zfx gene in undergoing X-inactivation, yet having homologous sequences on the short arm of the Y chromosome, which are expressed in the testis [8].
• For example, this evolutionary relationship is reflected during meiosis in chromosomal pairing between the tip of the human X chromosome short arm and the Y chromosome which presumably implies sequence homology [9].

Chemical compound and disease context of RBMY1H

• To test this hypothesis we analyzed the expression of Y chromosome specific genes in 5-aza-2'-deoxycytidine (5-azaC) treated and untreated prostate cancer cell lines [1].

Biological context of RBMY1H

• DNA methylation regulates the expression of Y chromosome specific genes in prostate cancer [1].
• RESULTS: Of the 10 Y chromosome specific genes DAZ gene expression was lacking in all prostate cancer cell lines but after demethylation treatment with 5-azaC DAZ expression was restored [1].
• The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients [2].
• Except for VCY, all other loci possess two or more pseudogenes on the Y chromosome [10].
• The RBMY (RNA-binding motif, Y chromosome) gene family encodes a germ-cell-specific nuclear protein implicated in spermatogenesis [11].

Anatomical context of RBMY1H

• Testis formation, particularly the specification of Sertoli cell and Leydig cell lineages, is controlled strictly by genetic components initiated by the testis-determining gene SRY (sex-determining region of the Y chromosome) [12].
• Blood plasma samples were analyzed using real-time quantitative polymerase chain reaction (PCR) with dual labeled fluorogenic probes for the presence of the SRY gene on the Y chromosome [13].
• Within human germ cells, RBM protein shows a similar nuclear distribution to components of the pre-mRNA splicing machinery [14].
• Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities [15].
• B cells may be implicated in the pathophysiology of chronic graft-versus-host disease (GVHD), as evidenced by antibody production against sex-mismatched, Y chromosome-encoded minor HLA antigens in association with chronic GVHD [16].

Associations of RBMY1H with chemical compounds

• The up- and down-regulation of several Y chromosome genes by androgen suggest that they may play a role(s) in the hormonally stimulated proliferation of the responsive LNCaP cells [5].
• The glutamate transporter gene solute carrier family 1, member 1 (SLC1A1) is a promising functional candidate in this region because altered glutamatergic concentrations have been found in the striatum and anterior cingulate in neuroimaging studies of pediatric OCD [17].
• A phylogenetic analysis revealed that GmICHG is a member of glycoside hydrolase family 1 and can be co-clustered with many other leguminous beta-glucosidases, the majority of which may also be involved in flavonoid-mediated interactions of legumes with microbes [18].
• C. elegans DKF-1 (D kinase family-1) contains tandem DAG binding (C1) modules, a PH (pleckstrin homology) domain, and a Ser/Thr protein kinase segment, which are homologous with domains in classical PKDs [19].
• In family 1, index case and her brother revealed a homozygous mis-sense mutation (c.1424G > A), a novel mutation, which results in the change of cysteine to tyrosine (C475Y) in exon 10 [20].

Other interactions of RBMY1H

• The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15-25% [2].
• Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene [11].
• Using a Y chromosome polymerase chain reaction (PCR) walking strategy and inverse PCR, we found that the abnormal recombination occurred between retroviral long terminal repeats located at Xp22.33 (position 0.95 Mb; inside the pseudoautosomal regions) and Yp11.2 (4.20 Mb) downstream of the sex-determining region Y (SRY) gene [21].
• Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene [22].
• VCY2 is a testis-specific gene that locates in the most frequently deleted azoospermia factor c region in the Y chromosome [4].

Analytical, diagnostic and therapeutic context of RBMY1H

• Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection [3].
• Spectral karyotyping of the patient's metaphase chromosomes showed normal autosomes and 2 X chromosomes, one of which displayed a small portion of the Y chromosome [21].
• Deletions of the AZFc interval of the human Y chromosome are found in >5% of male patients with idiopathic infertility and are associated with a severely reduced sperm count [23].
• A protocol consisting of double centrifugation at full speed followed by plasma filtration hampered the detection of Y chromosome-specific sequence in non-pregnant women [24].
• METHODS: The presence of chimeric cells was investigated by in situ hybridization targeting the Y chromosome in 57 renal biopsy samples from 49 women with lupus nephritis [25].

References