Characterization of the regulatory region of the human testis-specific form of the pyruvate dehydrogenase α-subunit (PDHA-2) gene

Datta, Utpal; Wexler, Isaiah D.; Kerr, Douglas S.; Patel, Mulchand S.

doi:10.1016/s0167-4781(99)00158-x

Cited by 15 publications

(19 citation statements)

References 23 publications

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“…Activation of the testis-specific E1 alpha subunit is crucial for the progression of spermatogenesis (Young et al, 1998). Functional studies of the promoter of the human PDHA2 gene have been analyzed (Datta et al, 1999). Two testis-specific E1 alpha PDHA2 transcripts are present in the testis: a 2.0 kb abundant in pachytene spermatocytes and a 1.7 kb transcript in round spermatids (Fitzgerald et al, 1994;Iannello and Dahl, 1992;Takakubo and Dahl, 1992 (Bonny et al, 1998).…”

Section: Microscopy Research and Techniquementioning

confidence: 99%

Surfing the wave, cycle, life history, and genes/proteins expressed by testicular germ cells. Part 3: Developmental changes in spermatid flagellum and cytoplasmic droplet and interaction of sperm with the zona pellucida and egg plasma membrane

Hermo¹,

Pelletier²,

Cyr³

et al. 2009

Microscopy Res & Technique

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Spermiogenesis constitutes the steps involved in the metamorphosis of spermatids into spermatozoa. It involves modification of several organelles in addition to the formation of several structures including the flagellum and cytoplasmic droplet. The flagellum is composed of a neck region and middle, principal, and end pieces. The axoneme composed of nine outer microtubular doublets circularly arranged to form a cylinder around a central pair of microtubules is present throughout the flagellum. The middle and principal pieces each contain specific components such as the mitochondrial sheath and fibrous sheath, respectively, while outer dense fibers are common to both. A plethora of proteins are constituents of each of these structures, with each playing key roles in functions related to the fertility of spermatozoa. At the end of spermiogenesis, a portion of spermatid cytoplasm remains associated with the released spermatozoa, referred to as the cytoplasmic droplet. The latter has as its main feature Golgi saccules, which appear to modify the plasma membrane of spermatozoa as they move down the epididymal duct and hence may be partly involved in male gamete maturation. The end product of spermatogenesis is highly streamlined and motile spermatozoa having a condensed nucleus equipped with an acrosome. Spermatozoa move through the female reproductive tract and eventually penetrate the zona pellucida and bind to the egg plasma membrane. Many proteins have been implicated in the process of fertilization as well as a plethora of proteins involved in the development of spermatids and sperm, and these are high lighted in this review.

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Section: Microscopy Research and Techniquementioning

confidence: 99%

Surfing the wave, cycle, life history, and genes/proteins expressed by testicular germ cells. Part 3: Developmental changes in spermatid flagellum and cytoplasmic droplet and interaction of sperm with the zona pellucida and egg plasma membrane

Hermo¹,

Pelletier²,

Cyr³

et al. 2009

Microscopy Res & Technique

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“…In an in vitro test, using testis nuclear extracts, the removal of the Ets motif caused a loss of activity in the mouse Pgk-2 promoter (Goto et al, 1993), and increased activity in the human PDHA-2 promoter (Datta et al, 1999). This suggests that Ets 1 function probably depended on the context of other transcriptional factors with which it interacts in a particular promoter.…”

Section: Kb 500bpmentioning

confidence: 99%

Structural and functional analysis of the promoters of the human glycerol kinase gene family

Banu¹,

M.²

2007

Afr. J. Biotechnol.

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During spermatogenesis the X-chromosome is inactivated, but several glycolytic cycle enzymes have been found to have spermatogenic cell specific isoforms encoded by the X-chromosome counterpart genes located on the autosomes. Here, the promoters of the human glycerol kinase gene family were cloned: the somatic gene called GK-Xp, and the two testis-specific isoforms called GK-1 and GK-2, using Alu-GSP primers. The structure and function of the promoters were determined by sequencing and in situ expression studies using GFP as reporter. The transcription initiation sites were mapped by RACE and, these were found at -112 for GK-Xp, -46 for GK-1, and for GK-2 at -57 nucleotide positions, upstream of the translation start codon. The GK-Xp promoter specifically contains a TATA-like motif at -26, and a CCAAT motif at -149, which are not found in either the GK-1 or GK-2 promoters. Interestingly, GK-1 contains an Inr motif, a Sp1 binding site at -11, and a DPE motif at +27 positions, whereas GK-2 contains an Inr motif, a CRE at -11, a DPE at +29 and a RARE motif at +43 positions. In addition, they both contain MEP-2 and Ets motifs, in common with other testis-specific metabolic enzymes genes, such as PGK-2 and PDHA-2.

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“…ACCEPTED MANUSCRIPT 4 It would be possibly important if PDHA2 gene could be switched on in somatic tissues of patients with PDC deficiency caused by mutations in PDHA1 gene [11,12], since it could open up new therapeutic avenues for this metabolic disease. It is therefore important to unravel the molecular mechanisms underlying PDHA2 gene expression in humans.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

“…Previous studies reported such mechanisms in the mouse orthologue [13,14,15], but it is believed that both mouse and human promoter regions evolved from different retroposons [16], because no gross homology exists between the promoters of the mouse and human genes. Accordingly, it was postulated that the regulatory mechanisms underlying the expression of the human PDHA2 gene should be significantly different from that of rodent species [12].…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

Pinheiro

Silva

Pavlu-Pereira

et al. 2016

Gene

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Characterization of the regulatory region of the human testis-specific form of the pyruvate dehydrogenase α-subunit (PDHA-2) gene

Cited by 15 publications

References 23 publications

Surfing the wave, cycle, life history, and genes/proteins expressed by testicular germ cells. Part 3: Developmental changes in spermatid flagellum and cytoplasmic droplet and interaction of sperm with the zona pellucida and egg plasma membrane

Surfing the wave, cycle, life history, and genes/proteins expressed by testicular germ cells. Part 3: Developmental changes in spermatid flagellum and cytoplasmic droplet and interaction of sperm with the zona pellucida and egg plasma membrane

Structural and functional analysis of the promoters of the human glycerol kinase gene family

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

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