A maternally inherited autosomal point mutation in human phospholipase C zeta (PLC ) leads to male infertility | Zendy

Junaid Kashir | Zendy; M. Konstantinidis | Zendy; Céline Jones | Zendy; Bernadette Lemmon | Zendy; H. C. Lee | Zendy; Rebecca Hamer | Zendy; Björn Heindryckx | Zendy; Charlotte M. Deane | Zendy; Petra De Sutter | Zendy; Rafael A. Fissore | Zendy; John Parrington | Zendy; Dagan Wells | Zendy; Kevin Coward | Zendy

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A maternally inherited autosomal point mutation in human phospholipase C zeta (PLC ) leads to male infertility

Author(s) -

Junaid Kashir,

M. Konstantinidis,

Céline Jones,

Bernadette Lemmon,

H. C. Lee,

Rebecca Hamer,

Björn Heindryckx,

Charlotte M. Deane,

Petra De Sutter,

Rafael A. Fissore,

John Parrington,

Dagan Wells,

Kevin Coward

Publication year - 2011

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/der384

Subject(s) - point mutation , genetics , mutation , infertility , male infertility , biology , endocrinology , medicine , gene , pregnancy

Male factor and idiopathic infertility contribute significantly to global infertility, with abnormal testicular gene expression considered to be a major cause. Certain types of male infertility are caused by failure of the sperm to activate the oocyte, a process normally regulated by calcium oscillations, thought to be induced by a sperm-specific phospholipase C, PLCzeta (PLCζ). Previously, we identified a point mutation in an infertile male resulting in the substitution of histidine for proline at position 398 of the protein sequence (PLCζ(H398P)), leading to abnormal PLCζ function and infertility.

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