A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad

Shan, Zhihong; Hirschmann, P.N.; Seebacher, Thomas; Edelmann, A; Jauch, Anna; Morell, Jane; Urbitsch, Peter; Vogt, Peter H.

doi:10.1093/hmg/5.12.2005

Cited by 100 publications

(49 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…related to DAZ than to boule (Xu et al 2001). Consequently, the autosomal dazl gene is considered the ancestor of the DAZ gene through transposition and repeated amplification and pruning (Gromoll et al 1999;Shan et al 1996). However, the third family member, boule, has been identified in species ranging from sea anemones through humans (Shah et al 2010).…”

Section: Electronic Supplementary Materialsmentioning

confidence: 99%

Differential expression of fertility genes boule and dazl in Chinese sturgeon (Acipenser sinensis), a basal fish

Yue

et al. 2015

Cell Tissue Res

View full text Add to dashboard Cite

The gene family DAZ (deleted in Azoospermia), including boule, dazl and DAZ, performs highly conserved functions in germ cell development and fertility across animal phyla. Differential expression patterns have been demonstrated for the family members in invertebrates and vertebrates including fish. Here, we report the identification of boule and dazl and their expression at both RNA and protein levels in developing and mature gonads of Chinese sturgeon (Acipenser sinensis). Firstly, the isolation of the boule and dazl genes in Chinese sturgeon and the observation of the two genes in coelacanth suggest that dazl originated after the divergence of bony fish from cartilaginous fish but before the emergence of the Actinistia. Quantitative real-time PCR and western blot analyses reveal that boule and dazl RNA and proteins are restricted to the testis and ovary. In situ hybridization and fluorescent immunohistochemistry show that the bisexual mitotic and meiotic germ cell expression of dazl RNA and protein is conserved in vertebrates, while Chinese sturgeon boule RNA and protein exhibit mitotic and meiotic expression in the testis, and also likely display mitotic and meiotic expression in female. Moreover, we directly demonstrate for the first time that sturgeon Balbiani body/mitochondrial cloud disperses in the cytoplasm of early developing oocytes and co-localizes with Dazl to some extent. Finally, urbilaterian boule may also have an ancestral function in oogenesis. Taken together, these results provide useful information on the evolution of DAZ family genes, expression patterns and functions in animal reproduction.

show abstract

Section: Electronic Supplementary Materialsmentioning

confidence: 99%

Differential expression of fertility genes boule and dazl in Chinese sturgeon (Acipenser sinensis), a basal fish

Yue

et al. 2015

Cell Tissue Res

View full text Add to dashboard Cite

show abstract

“…It is a multicopy gene with two copies situated in P2 (DAZ1/DAZ2) and two located 1.47 Mb distant in the large P1 palindrome (DAZ3/DAZ4). The DAZ gene has been transposed and pruned (amplified) from chromosome 3 (3p25; DAZL1 locus) after divergence of the Old world monkey line of primates (35,36). The structure of the 4 copies is variable especially in the number of exon 7 variants which is also known as the "DAZ-repeat" (37,38).…”

Section: Azfc Regionmentioning

confidence: 99%

Y chromosome and male infertility: Update, 2006

Krausz¹

2006

Front Biosci

155

View full text Add to dashboard Cite

“…The DAZ gene family has been transposed from the DAZL1 locus on chromosome 3 (3p25) to the Y chromosome after divergence of the Old world monkey line of primates, i.e., not before about 35 million years ago [83,84]. The CDY gene family originates from a polyadenylated mRNA of the CDYL locus on chromosome 6 which has been then retrotransposed to the Y chromosome also first after divergence of the Old world monkey line of primates [85].…”

Section: The Azf Locus In Yq11mentioning

confidence: 99%

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Vogt¹

2004

CPD

View full text Add to dashboard Cite

Genetic lesions causing human male infertility are manifold. Besides gross chromosomal aneuploidies and rearrangements, microdeletions and single gene defects can interfere with male fertility. Male fertility is not only dependent on genes controlling the male germ line but also on genes of the networks functional for male gonad development and male somatic development, respectively. It is popular to unravel these netweorks with mouse gene knock-out mutants displaying reproductive defects. However, substantial arguments can be given for more functional studies directly on the human genes, because multiple reproductive proteins evolve quickly most likely for adopting to the specific needs of the species class. Prominent examples are mutations of the FSHR gene causing different pathologies in mouse and human and the DAZ gene family not found in the mouse genome but in the human genome with an essential male fertility function. Therefore this review is focussed on a comprehensive overview of human genes known with mutations causing male infertility (AR; AZF gene families; CFTR, DM-1, DNAH gene family, FGFR1, FSHR, INSL3, KAL-1, LGR8-GREAT, LHR, POLG). Then some human genes are described well recognised as functional in spermatogenesis and male fertility although gene specific mutations causing infertility were not yet identified (CREM, CDY1, DAZL1, PHGPx, PRM-1, PRM-2). They are designated as "spermatogenesis phase marker" or "male fertility index" genes, because they are useful tools for diagnosing the patient´s´ spermatogenesis disruption phase and for predicting the presence and quality of his mature sperms. Current therapeutic protocols for human male infertility do usually not cure the specific gene defect but try to bypass it using Artificial Reproductive Technology (ART). Putative imprinting defects in the early embryo probably associated with the used ART protocol and an increase of chromosome abnormalities in the ART offspring now strongly asks for a significant improvement of this outcome requesting urgently more basic research on the genes functioning in the human male germ line and during early human embryogenesis.

show abstract

A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad

Cited by 100 publications

References 30 publications

Differential expression of fertility genes boule and dazl in Chinese sturgeon (Acipenser sinensis), a basal fish

Differential expression of fertility genes boule and dazl in Chinese sturgeon (Acipenser sinensis), a basal fish

Y chromosome and male infertility: Update, 2006

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Contact Info

Product

Resources

About