Aberrant sperm flagella impair sperm motility and cause male infertility, yet the genes which have been identified in multiple morphological abnormalities of the flagella (MMAF) can only explain the pathogenic mechanisms of MMAF in a small number of cases. Here, we identify and functionally characterize homozygous loss-of-function mutations of QRICH2 in two infertile males with MMAF from two consanguineous families. Remarkably, Qrich2 knock-out (KO) male mice constructed by CRISPR-Cas9 technology present MMAF phenotypes and sterility. To elucidate the mechanisms of Qrich2 functioning in sperm flagellar formation, we perform proteomic analysis on the testes of KO and wild-type mice. Furthermore, in vitro experiments indicate that QRICH2 is involved in sperm flagellar development through stabilizing and enhancing the expression of proteins related to flagellar development. Our findings strongly suggest that the genetic mutations of human QRICH2 can lead to male infertility with MMAF and that QRICH2 is essential for sperm flagellar formation.

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A newly developed flexible calibration algorithm for telecentric 3D measurement systems is presented in this paper. We theoretically analyzed the similarities and differences between the telecentric and entocentric system. The telecentric system can be calibrated with the aid of the traditional 2D planar calibration method. An additional two-step refining process is proposed to improve the calibration accuracy effectively. With the calibration and refining algorithm, an affine camera can be calibrated with a reprojection error of 0.07 pixel. A projector with small field of view (FOV) is applied to achieve a full 3D reconstruction in our profilometry system. Experiments with a prototype demonstrate the validation and accuracy of the proposed calibration algorithm and system configuration. The reconstruction accuracy can achieve 5 µm with a measurement FOV of 28.43 mm×21.33 mm and a working distance of 110 mm.