Disease relevance of RBMY1A3P

• We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with azoospermia (no sperm in semen) [1].
• CONCLUSIONS: A small proportion of men with infertility have Y-chromosome microdeletions, but the size and position of the deletions correlate poorly with the severity of spermatogenic failure, and a deletion does not preclude the presence of viable sperm and possible conception [2].
• Detection of Y-chromosome sequences in gonadal tissue of patients with Turner's syndrome (45,X) [3].
• Y-chromosome structural rearrangement in Philadelphia chromosome-negative chronic myelogenous leukemia [4].
• Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome [5].

Psychiatry related information on RBMY1A3P

• A family based study implicates solute carrier family 1-member 3 (SLC1A3) gene in attention-deficit/hyperactivity disorder [6].
• RESULTS: While all affected individuals presented with dementia in both families, only individuals in family 1 developed visual hallucinations and delusions [7].
• We describe a boy with borderline mental retardation, gross and fine motor coordination difficulty, muscle rigidity, ptosis, clinodactyly, and a Y chromosome of different lengths in two separate cell populations [8].
• CONCLUSIONS: This population-based study did not find evidence supporting the presence of risk alleles for schizophrenia or bipolar disorder on the X chromosome or the pseudoautosomal region on the Y chromosome [9].
• Detailed evaluation of physical traits and psychometric tests was performed on three retarded males from family 1 and the propositus from family 2 [10].

High impact information on RBMY1A3P

• A genome-wide screen in Family 1 linked diabetes to chromosome 9q34 (maximal lod score 5.07) [11].
• The mammalian Y chromosome has unique characteristics compared with the autosomes or X chromosomes [12].
• Here we report the finished sequence of the chimpanzee Y chromosome (PTRY), including 271 kb of the Y-specific pseudoautosomal region 1 and 12.7 Mb of the male-specific region of the Y chromosome [12].
• Reconstruction of the common ancestral Y chromosome reflects the dynamic changes in our genomes in the 5-6 million years since speciation [12].
• Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome [13].

Chemical compound and disease context of RBMY1A3P

• In this study, the prevalence of Y chromosome loss in 29 carcinomas of the esophagus and 53 carcinomas arising elsewhere in the aerodigestive tract was assessed by in situ hybridization of formalin-fixed paraffin-embedded tissue sections [14].
• The index case in Family 1 had vasculitis, thrombocytopenia, proteinuria, and depressed serum H and C3 levels [15].
• Gunn rats were also studied, since they express defective UGT family 1 isoenzymes and are also prone to acetaminophen toxicity [16].
• An unusual structural rearrangement of the Y chromosome resulting in seven different cell lines was found in a male infant with coronal synostosis as the only major clinical symptom [17].
• Muscle contractures to the caffeine challenge (2 mM) were significantly increased in family 1 (7.3 +/- 1.4 mN) compared with those in family 3 (1.3 +/- 1.0 mN) [18].

Biological context of RBMY1A3P

• Those six patients in whom Y-specific DNA was found (Y(+)) inherited the entire pseudoautosomal region from the paternal Y chromosome and lost that of the paternal X chromosome [19].
• A major founder Y-chromosome haplotype in Amerindians [20].
• The Y chromosome and spermatogenesis [21].
• These results challenge prevailing views of sex chromosome evolution, suggesting that acquisition of autosomal fertility genes is an important process in Y chromosome evolution [22].
• Here we directly test this hypothesis by comparing global patterns of DNA sequence variation on the Y chromosome and mitochondrial DNA (mtDNA) in the same panel of 389 individuals from ten populations (four from Africa and two each from Europe, Asia and Oceania) [23].

Anatomical context of RBMY1A3P

• Maleness is normally inherited as a dominant trait (a single copy of the Y chromosome induces testicular differentiation of the embryonic gonad), but our genealogic study of three XX males in one pedigree indicated an autosomal recessive mode of male inheritance [24].
• Furthermore, Y-chromosome sequences were identified in skin-biopsy specimens from 11 of 19 women with systemic sclerosis (58 percent); 9 of the 11 were known to have carried male fetuses [25].
• RESULTS: Y-chromosome sequences were found in DNA from peripheral-blood cells in 32 of 69 women with systemic sclerosis (46 percent), as compared with 1 of 25 normal women (4 percent, P<0.001), and in T lymphocytes from 3 women with systemic sclerosis who had male offspring [25].
• The Y chromosome can be used to detect migrated undifferentiated cells expressing stem-cell antigens and to discriminate between primitive cells derived from the recipient and those derived from the donor [26].
• We used immunohistochemical methods to identify mesenchymal cells with smooth-muscle alpha-actin and in situ hybridization to identify mesenchymal cells with Y-chromosome DNA [27].

Associations of RBMY1A3P with chemical compounds

• The Y chromosome showed a concentration of 5-methylcytosine residues on the distal long arm, and in areas just below and slightly above the centromere [28].
• Y chromosome visibility in quinacrine-stained human spermatozoa [29].
• The propoxur resistance allele (dominant) was linked to the Y chromosome via a radiation-induced translocation, and genetic recombination was suppressed by inversions [30].
• Male development is due to two-step interventions of this basic plan: the Y chromosome directs the embryonic indifferent gonad to organize a testis instead of an ovary; the Y-organized testis synthesizes and secretes testosterone, which induces all the extragonadal masculine development [31].
• Sequencing of adhalin cDNA prepared from skeletal muscle by reverse transcription PCR demonstrated a cytosine to thymidine substitution at nt 229 in the patient in family 1 and an adenine to guanine substitution at nt 410 and a 15-base insertion between nt 408 and 409 in the two patients in family 2 [32].

Analytical, diagnostic and therapeutic context of RBMY1A3P

• METHODS: We used the polymerase chain reaction (PCR) to identify Y-chromosome sequences in DNA extracted from peripheral-blood cells and skin lesions from women with systemic sclerosis of recent onset [25].
• Nucleated cells containing Y chromosomes were detected by fluorescence in situ hybridization in paraffin-embedded sections of skin lesions from all seven women we tested whose skin-biopsy specimens contained Y-chromosome sequences [25].
• The structure and evolution of a repetitive sequence on the human Y chromosome has been studied by restriction enzyme analysis of both total DNA and the isolated sequence [33].
• METHODS: Mutation-specific predictive genetic testing was performed by polymerase-chain-reaction amplification, followed by restriction-enzyme digestion and DNA sequencing in Family 1 and by heteroduplex analysis in Family 2 [34].
• Patients with Y chromosome deletions frequently have sperm either in the ejaculate or within the testis and are therefore suitable candidates for assisted reproduction techniques [35].

References