A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis

Knepper, M. A.; Inglis, J.M.; Sharkey, Andrew; Bickmore, Wendy A.; Hill, Robert E.; Prosser, E.Jane; Speed, R. M.; Thomson, Eric J.; Jobling, Mark A.; Taylor, Kmg; Wolfe, Jonathan; Cooke, Howard J.; Hargreave, T. B.; Chandley, Ann C.

doi:10.1016/0092-8674(93)90616-x

Cited by 476 publications

(250 citation statements)

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“…One that has been described, RBMY1A1 (RNA binding motif protein, Y chromosome, family 1, member A1), is expressed only in early stage male germ cells (Class III), confirming previous data [137,138,184,185]. It is of special interest because of its clinical link to oliogspermic males [139]. The intricacies of its function in the germline are unknown, but it does interact with splicing regulators, including another protein we identified on this list (SFRS10), leading some to hypothesize its tissue specific role in alternative splicing [26,27].…”

Section: Discussionsupporting

confidence: 69%

“…This well conserved protein is also linked to male infertility, and it specifically associates with the mRNA of proteins necessary for spermatogenesis further establishing the role of RMBY1A1 and male germline specific splicing as critical to spermatogenic function [139][140][141]. Identifying other mRNA regulatory proteins, and their target mRNAs, will extend our basic biological understanding of SSCs and spermatogenesis beyond the transcriptome.…”

Section: Rna Regulation In the Male Germlinementioning

confidence: 99%

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GDNF Signaling Regulates YBX1/mRNA Interactions in Mouse Spermatogonia.

Phillips

Peters

Orwig

2012

Biology of Reproduction

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Section: Discussionsupporting

confidence: 69%

Section: Rna Regulation In the Male Germlinementioning

confidence: 99%

GDNF Signaling Regulates YBX1/mRNA Interactions in Mouse Spermatogonia.

Phillips

Peters

Orwig

2012

Biology of Reproduction

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“…Molecular and cytogenetic studies from infertile men have shown that microdeletions within the azoospermia factor region (AZF) [5] are prevalent causes of male factor infertility. Analysis of these microdeletions resulted in the identification of three loci in Yq11 involved in the control of spermatogenesis, corresponding to three non-overlapping regions: AZFa, AZFb, AZFc [6][7][8]. About 10-15 % of azoospermia and severe-oligozoospermia patients have microdeletions in AZF region of Y chromosome [9].…”

Section: Introductionmentioning

confidence: 99%

Efficient combined FISH and PRINS technique for detection of DAZ microdeletion in human sperm

Mozdarani

Ghoraeian

2012

J Assist Reprod Genet

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Intracytoplasmic sperm injection (ICSI) now offers an effective therapeutic option for men with male infertility and is believed to allow transmission of genetically determined infertility to the male offspring. Transmission of DAZ (Deleted in Azoospermia) microdeletion is one of the major concerns for oligo and severe oligozoospermia patients. Screening of the Y chromosome microdeletion in the diagnostic work-up of infertile men is mainly done using polymerase chain reaction (PCR) on blood leukocytes. However, there are evidences showing that presence of DAZ in somatic cells might not be indicative of its presence in germ cell lineage. In this report we are going to describe a combined Primed in situ labeling (PRINS) and fluorescence in situ hybridization (FISH) technique to show the localization of DAZ gene as well as Y chromosome centromere on sperm nuclei. PRINS is a combination of FISH and in situ polymerization provides another approach for in situ chromosomal detection. In the present study the PRINS primers specific for DAZ genes and traditional direct labeled centromere FISH probes for Y and X chromosomes were used in order to simultaneously detect DAZ genes and sex chromosome aneuploidy in sperm samples.

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“…During the last decade, several candidate genes for spermatogenesis have been identi®ed, such as the RNA binding motif (RBM) on AZFb or the deleted in azoospermia (DAZ) on AZFc, but the crucial gene for spermatogenesi s has not yet been identi®ed [10,16].…”

mentioning

confidence: 99%