Cloning of STK13, a Third Human Protein Kinase Related toDrosophilaAurora and Budding Yeast Ipl1 That Maps on Chromosome 19q13.3–ter

Bernard, Michael P.; Sanséau, Philippe; Henry, Cathérine; Couturier, Antoine; Prigent, Claude

doi:10.1006/geno.1998.5522

Cited by 84 publications

(69 citation statements)

References 18 publications

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“…The AURKC gene, located at 19q13.43 has 7 coding exons and encodes a 309 amino acids protein that is a member of the Aurora subfamily of serine/threonine protein kinases [22]. It is a component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis.…”

Section: Sperm Dna Fragmentation Studiesmentioning

confidence: 99%

Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

108

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Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology over 85 % in sperm. When all the spermatozoa display a unique abnormality, teratozoospermia is said to be monomorphic. Two forms of monomorphic teratozoospermia, representing less than 1 % of male infertility, are recognized: macrozoospermia (also called macrocephalic sperm head syndrome) and globozoospermia (also called round-headed sperm syndrome). Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. Meiotic segregation studies in 30 males revealed that over 90 % of spermatozoa were aneuploid, mainly diploid. Sperm DNA fragmentation studies performed in a few patients showed an increase in DNA fragmentation index compared to fertile men. Four mutations in the AURKC gene, a key player in meiosis and more particularly in spermatogenesis, have been found to be responsible for macrozoospermia. Globozoospermia is characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. The rate of aneuploidy of various chromosomes in spermatozoa from 26 globozoospermic men was slightly increased compared to fertile men. However, this increase was of the same order as that commonly found in infertile men with altered sperm parameters. The majority of the studies found that globozoospermic males had a sperm DNA fragmentation index higher than in fertile men. Mutations or deletions in three genes, SPATA16, PICK1 and DPY19L2, have been shown to be responsible for globozoospermia. Identification of the genetic causes of macrozoospermia and globozoospermia should help refine diagnosis and treatment of these patients, avoiding long and painful treatments. Elucidating the molecular causes of these defects is of utmost importance as intracytoplasmic sperm injection (ICSI) is very disappointing in these two pathologies.

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Section: Sperm Dna Fragmentation Studiesmentioning

confidence: 99%

Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

108

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“…14) Recent investigations revealed the presence of various members of the Aurora/Ipl1-related kinase family (AIRKs) from yeast to human, and Giet and Prigent 15) proposed a generic name, AIRKs with a species prefix and a number. Although all the members have highly homologous C-terminal kinase domains, similarity in N-terminal domains has indicated that they fall into three subgroups in mammals: (a) HsAIRK1 for human; AIK1/BTAK/aurora2/ ARK1/STK15/STK6 [16][17][18][19][20] and MmAIRK1 for mouse; Ayk1/IAK1/ARK1, 19,21,22) (b) HsAIRK2 for human; ARK2/AIK2/aurora1/AIM-1, 18,19,23,24) MmAIRK2 for mouse; STK-1/ARK2 19,25) and RnAIRK2 for rat; AIM-1, 26) (c) HsAIRK3 for human; AIK3/STK13/AIE2 [27][28][29] and MmAIRK3 for mouse; AIE1. 29) Previous investigations [30][31][32][33] revealed chromosomal aberrations at chromosome 20q13, where the HsAIRK1 gene has been mapped, 17,34) in cancer tissues of several organs.…”

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confidence: 99%

“…20) Furthermore, the HsAIRK3 gene is located on human chromosome 19q13. 43,27,28) a region rearranged or deleted in several cancer cells. [36][37][38] HsAIRK3 is expressed cell cycle-dependently and localized in centrosomes from anaphase to cytokinesis, with overexpression reported for some cancer cell lines.…”

mentioning

confidence: 99%

Centrosomal Kinases, HsAIRK1 and HsAIRK3, are Overexpressed in Primary Colorectal Cancers

Takahashi¹,

Futamura²,

Yoshimi³

et al. 2000

Japanese Journal of Cancer Research

108

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“…However, no causative gene mutation has been identified in these orthologs or in any other human gene. A family with three affected brothers was reported, in whom a homozygous mutation in the spermatogenesis‐specific gene, SPATA16 , at 3q26, was identified 28. The first case of a successful pregnancy that was obtained by using ICSI for an infertile 29 year old man with a homozygous mutation in SPATA16 has been reported 29…”

Section: Culprit Genes That Have Been Identified In Autosomesmentioning

confidence: 99%

Human male infertility and its genetic causes

Miyamoto

Minase

Shin

et al. 2017

Reprod Medicine & Biology

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BackgroundInfertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the SYCP3 gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation.MethodsWe mainly describe the SYCP3 and PLK4 genes that we have studied in our laboratory, and add comments on other genes associated with human male infertility.ResultsUp to now, The 17 genes causing male infertility by their mutation have been reported in human.ConclusionsInfertility caused by nonobstructive azoospermia (NOA) is very important in the field of assisted reproductive technology. Even with the aid of chromosomal analysis, ultrasonography of the testis, and detailed endocrinology, only MD‐TESE can confirm the presence of immature spermatozoa in the testes. We strongly hope that these studies help clinics avoid ineffective MD‐TESE procedures.

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Cloning of STK13, a Third Human Protein Kinase Related toDrosophilaAurora and Budding Yeast Ipl1 That Maps on Chromosome 19q13.3–ter

Cited by 84 publications

References 18 publications

Genetic aspects of monomorphic teratozoospermia: a review

Genetic aspects of monomorphic teratozoospermia: a review

Centrosomal Kinases, HsAIRK1 and HsAIRK3, are Overexpressed in Primary Colorectal Cancers

Human male infertility and its genetic causes

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