Cellular ontogeny of RBMY during human spermatogenesis and its role in sperm motility

Abid, Shadaan; Sagare-Patil, Vrushali; Gokral, Jyotsna; Modi, Deepak

doi:10.1007/s12038-012-9281-8

Cited by 18 publications

(18 citation statements)

References 29 publications

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“…Similarly, RPS4Y2 lies within the AZFb locus, also suggesting a link with male infertility [ 13 ]. RBMY1, part of the RBMY gene family, has been shown to be involved in the regulation of sperm motility [ 14 ], and deletion of it has been associated with male infertility [ 15 ]. Ten genes in the dataset are annotated as DAZ1 to DAZ4.…”

Section: Resultsmentioning

confidence: 99%

Errors in RNA-Seq quantification affect genes of relevance to human disease

2015

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BackgroundRNA-Seq has emerged as the standard for measuring gene expression and is an important technique often used in studies of human disease. Gene expression quantification involves comparison of the sequenced reads to a known genomic or transcriptomic reference. The accuracy of that quantification relies on there being enough unique information in the reads to enable bioinformatics tools to accurately assign the reads to the correct gene.ResultsWe apply 12 common methods to estimate gene expression from RNA-Seq data and show that there are hundreds of genes whose expression is underestimated by one or more of those methods. Many of these genes have been implicated in human disease, and we describe their roles. We go on to propose a two-stage analysis of RNA-Seq data in which multi-mapped or ambiguous reads can instead be uniquely assigned to groups of genes. We apply this method to a recently published mouse cancer study, and demonstrate that we can extract relevant biological signal from data that would otherwise have been discarded.ConclusionsFor hundreds of genes in the human genome, RNA-Seq is unable to measure expression accurately. These genes are enriched for gene families, and many of them have been implicated in human disease. We show that it is possible to use data that may otherwise have been discarded to measure group-level expression, and that such data contains biologically relevant information.Electronic supplementary materialThe online version of this article (doi:10.1186/s13059-015-0734-x) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Errors in RNA-Seq quantification affect genes of relevance to human disease

2015

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“…It probably controls some germ cell-specific splicing processes of transcripts occurring in germ cells predominantly before meiosis and required for the meiotic cell divisions. Moreover, partial RBMY gene deletion might be associated with the OAT syndrome (see above) because expression of the RBMY protein was also found in postmeiotic round and elongating spermatids and in the midpiece region of sperm [83] .…”

Section: Azfb Gene Deletions and Male Infertilitymentioning

confidence: 99%

Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function

Vogt¹,

Bender²,

Zimmer³

et al. 2017

Genetics of Human Infertility

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In the euchromatic part of the long arm of the human Y chromosome (Yq11) at least 13 Y genes encoding proteins and expressed in male germ cells were found in 3 distinct genomic Y regions frequently deleted in infertile men with idiopathic azoospermia, i.e., for unknown reasons no mature sperm were found in their semen fluid. Accordingly, they were designated as azoospermia factor (AZF) regions: AZFa, AZFb, and AZFc. Additionally, 10 Y genes called "testis-specific transcript Y" ( TTTY ) genes were mapped in the same AZF intervals. They belong to the long non-coding RNA gene pool in human germ cells because they seem to lack any protein-coding potential. Distinct chromatin regions in Yq11 overlapping with AZFb and AZFc are supposed to be involved in the premeiotic X and Y chromosome pairing and inactivation process controlling male germ cell meiosis. It can thus be assumed that the germ line function of the AZF loci in Yq11 may be not only based on the expression of some germ cell proteins, but also on the expression of some germ cell-specific TTTY transcripts and a locally dynamic and specific chromatin folding structure probably controlled by some germ cell-specific nuclear proteins.

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“…In the testis, RBMY is expressed in spermatogonia, spermatocytes, pachytene cells, and spermatids. 24,25 Beyond the germ cells, RBMY has also been detected in the tail of human spermatozoa. Furthermore, an antibody against human RBMY has been found to block sperm motility, implying that this protein may be involved in motility.…”

Section: Azfb Locus and Its Genesmentioning

confidence: 99%

“…Furthermore, an antibody against human RBMY has been found to block sperm motility, implying that this protein may be involved in motility. 25 The EIF1AY encodes an abundantly expressed translation initiation factor, Y isoform of eIF-1A.…”

Section: Azfb Locus and Its Genesmentioning

confidence: 99%

Role of Y Chromosome Microdeletions in the Clinical Evaluation of Infertile Males

Modi¹,

Colaco²,

Lakdawala³

2017

MGM Journal of Medical Sciences

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Infertility is a multifaceted condition, which is on the rise in the last few decades. A stage of great importance in the development of human male gametes is spermatogenesis, which is governed by a set of genes located on the q arm of the Y chromosome. Loss of these genes can cause disruptions in spermatogenesis and, thus, lead to male infertility. Studies have identified several deletions on the long arm of the Y chromosome, called Yq microdeletions, which occur in three distinct loci termed AZFa, AZFb, and AZFc. In addition to these, there exist small subdeletions in the AZFc locus, called gr/gr, b1/b2, or b2/b3 subdeletions. Such deletions can lead to azoospermia or oligozoospermia by causing Sertoli cell-only syndrome, impairment in spermatogenesis, or maturation arrest. Testing for Y chromosome microdeletions is clinically significant for several reasons, since these deletions are exclusively associated with male infertility and their detection can help identify the cause of infertility. Knowing the presence or absence of Y chromosome microdeletion also aids in predicting the prognosis of oligozoospermic males, who are usually known to progress to azoospermia over time. The occurrence and type of Yq microdeletion are correlated with testicular phenotype in infertile males and, thus, serve as a good predictor of sperm retrieval. Vertical transmission of Y chromosome microdeletions from father to the male offspring is common in pregnancies achieved via assisted reproductive technologies; hence, the diagnosis of these deletions becomes imperative in such couples to prevent perpetuation of infertility in the next generation. Screening for Yq microdeletions is, thus, clinically significant and must be offered to all infertile males.

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Cellular ontogeny of RBMY during human spermatogenesis and its role in sperm motility

Cited by 18 publications

References 29 publications

Errors in RNA-Seq quantification affect genes of relevance to human disease

Errors in RNA-Seq quantification affect genes of relevance to human disease

Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function

Role of Y Chromosome Microdeletions in the Clinical Evaluation of Infertile Males

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