REFRENCES
Auguste, Y., Delague, V., Desvignes, J. P., Longepied, G., Gnisci, A.,
Besnier, P., Levy, N., Beroud, C., Megarbane, A., Metzler-Guillemain,
C., & Mitchell, M. J. (2018). Loss of Calmodulin- and
Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile
Spermatozoa Lacking Mitochondria and Infertility in Men. American
Journal of Human Genetics , 103(3), 413–420.https://doi.org/10.1016/j.ajhg.2018.07.013
Ben Khelifa, M., Coutton, C., Zouari, R., Karaouzène, T., Rendu, J.,
Bidart, M., Yassine, S., Pierre, V., Delaroche, J., Hennebicq, S.,
Grunwald, D., Escalier, D., Pernet-Gallay, K., Jouk, P. S.,
Thierry-Mieg, N., Touré, A., Arnoult, C., & Ray, P. F. (2014).
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead
to male infertility from multiple morphological abnormalities of the
sperm flagella. American Journal of Human Genetics , 94(1),
95–104.https://doi.org/10.1016/j.ajhg.2013.11.017
Beurois, J., Martinez, G., Cazin, C., Kherraf, Z. E., Amiri-Yekta, A.,
Thierry-Mieg, N., Bidart, M., Petre, G., Satre, V., Brouillet, S.,
Touré, A., Arnoult, C., Ray, P. F., & Coutton, C. (2019). CFAP70
mutations lead to male infertility due to severe
astheno-teratozoospermia. A case report. Human Reproduction ,
34(10), 2071–2079.https://doi.org/10.1093/humrep/dez166
Böttinger, L., Guiard, B., Oeljeklaus, S., Kulawiak, B., Zufall, N.,
Wiedemann, N., Warscheid, B., van der Laan, M., & Becker, T. (2013). A
complex of Cox4 and mitochondrial Hsp70 plays an important role in the
assembly of the cytochrome c oxidase. Molecular Biology of the
Cell , 24(17), 2609–2619.https://doi.org/10.1091/mbc.E13-02-0106
Colaco, S., & Modi, D. (2018). Genetics of the human Y chromosome and
its association with male infertility. Reproductive Biology and
Endocrinology , 16(1), 14.https://doi.org/10.1186/s12958-018-0330-5
Coutton, C., Vargas, A. S., Amiri-Yekta, A., Kherraf, Z. E., Ben
Mustapha, S. F., Le Tanno, P., Wambergue-Legrand, C., Karaouzène, T.,
Martinez, G., Crouzy, S., Daneshipour, A., Hosseini, S. H., Mitchell,
V., Halouani, L., Marrakchi, O., Makni, M., Latrous, H., Kharouf, M.,
Deleuze, J. F., Boland, A., … Ray, P. F. (2018). Mutations in
CFAP43 and CFAP44 cause male infertility and flagellum defects in
Trypanosoma and human. Nature Communications , 9(1), 686.https://doi.org/10.1038/s41467-017-02792-7
Davis-Dao, C. A., Tuazon, E. D., Sokol, R. Z., & Cortessis, V. K.
(2007). Male infertility and variation in CAG repeat length in the
androgen receptor gene: a meta-analysis. The Journal of Clinical
Endocrinology and Metabolism , 92(11), 4319–4326.https://doi.org/10.1210/jc.2007-1110
Ferlin, A., Bettella, A., Tessari, A., Salata, E., Dallapiccola, B., &
Foresta, C. (2004). Analysis of the DAZ gene family in cryptorchidism
and idiopathic male infertility. Fertility and Sterility , 81(4),
1013–1018.https://doi.org/10.1016/j.fertnstert.2003.08.053
Gameiro, S., & Finnigan, A. (2017). Long-term adjustment to unmet
parenthood goals following ART: a systematic review and meta-analysis.Human Reproduction Update , 23(3), 322–337.
https://doi.org/10.1093/humupd/dmx001
He, X., Li, W., Wu, H., Lv, M., Liu, W., Liu, C., Zhu, F., Li, C., Fang,
Y., Yang, C., Cheng, H., Zhang, J., Tan, J., Chen, T., Tang, D., Song,
B., Wang, X., Zha, X., Wang, H., Wei, Z., … Cao, Y. (2019). Novel
homozygous CFAP69 mutations in humans and mice cause severe
asthenoteratospermia with multiple morphological abnormalities of the
sperm flagella. Journal of Medical Genetics , 56(2), 96–103.https://doi.org/10.1136/jmedgenet-2018-105486
He, X., Liu, C., Yang, X., Lv, M., Ni, X., Li, Q., Cheng, H., Liu, W.,
Tian, S., Wu, H., Gao, Y., Yang, C., Tan, Q., Cong, J., Tang, D., Zhang,
J., Song, B., Zhong, Y., Li, H., Zhi, W., … Cao, Y. (2020).
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme
and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans
and Mice. American Journal of Human Genetics , 107(3), 514–526.https://doi.org/10.1016/j.ajhg.2020.07.010
Inaba K. (2011). Sperm flagella: comparative and phylogenetic
perspectives of protein components. Molecular Human Reproduction ,
17(8), 524–538.https://doi.org/10.1093/molehr/gar034
Jiao, S.Y., Yang, Y.H. and Chen, S.R. (2021). Molecular geneticsof
infertility: loss-of-function mutations in humans and corresponding
knockout/mutatedmice. Human Reproduction Update , 27(1), 154–189.https://doi.org/10.1093/humupd/dmaa034
Kissel, H., Georgescu, M. M., Larisch, S., Manova, K., Hunnicutt, G. R.,
& Steller, H. (2005). The Sept4 septin locus is required for sperm
terminal differentiation in mice. Developmental Cell , 8(3),
353–364.https://doi.org/10.1016/j.devcel.2005.01.
Kleiman, S. E., Almog, R., Yogev, L., Hauser, R., Lehavi, O., Paz, G.,
Yavetz, H., & Botchan, A. (2012). Screening for partial AZFa
microdeletions in the Y chromosome of infertile men: is it of clinical
relevance?. Fertility and Sterility , 98(1), 43–47.https://doi.org/10.1016/j.fertnstert.2012.03.034
Li, W., Wu, H., Li, F., Tian, S., Kherraf, Z. E., Zhang, J., Ni, X., Lv,
M., Liu, C., Tan, Q., Shen, Y., Amiri-Yekta, A., Cazin, C., Zhang, J.,
Liu, W., Zheng, Y., Cheng, H., Wu, Y., Wang, J., Gao, Y., …
Zhang, F. (2020). Biallelic mutations in CFAP65 cause male
infertility with multiple morphological abnormalities of the sperm
flagella in humans and mice. Journal of Medical
Genetics , 57 (2), 89–95.https://doi.org/10.1136/jmedgenet-2019-106344
Liu, C., Tu, C., Wang, L., Wu, H., Houston, B. J., Mastrorosa, F. K.,
Zhang, W., Shen, Y., Wang, J., Tian, S., Meng, L., Cong, J., Yang, S.,
Jiang, Y., Tang, S., Zeng, Y., Lv, M., Lin, G., Li, J., Saiyin, H.,
… Zhang, F. (2021). Deleterious variants in X-linked CFAP47
induce asthenoteratozoospermia and primary male infertility.American Journal of Human Genetics , 108(2), 309–323.https://doi.org/10.1016/j.ajhg.2021.01.002
Mueller, J. L., Mahadevaiah, S. K., Park, P. J., Warburton, P. E., Page,
D. C., & Turner, J. M. (2008). The mouse X chromosome is enriched for
multicopy testis genes showing postmeiotic expression. Nature
Genetics , 40 (6), 794–799.https://doi.org/10.1038/ng.126
Navarro-Costa, P., Gonçalves, J., & Plancha, C. E. (2010). The AZFc
region of the Y chromosome: at the crossroads between genetic diversity
and male infertility. Human Reproduction Update , 16(5), 525–542.https://doi.org/10.1093/humupd/dmq005
Paff, T., Loges, N. T., Aprea, I., Wu, K., Bakey, Z., Haarman, E. G.,
Daniels, J., Sistermans, E. A., Bogunovic, N., Dougherty, G. W., Höben,
I. M., Große-Onnebrink, J., Matter, A., Olbrich, H., Werner, C., Pals,
G., Schmidts, M., Omran, H., & Micha, D. (2017). Mutations in PIH1D3
Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein
Arm Defects. American Journal of Human Genetics , 100(1),
160–168.https://doi.org/10.1016/j.ajhg.2016.11.019
Patat, O., Pagin, A., Siegfried, A., Mitchell, V., Chassaing, N.,
Faguer, S., Monteil, L., Gaston, V., Bujan, L., Courtade-Saïdi, M.,
Marcelli, F., Lalau, G., Rigot, J. M., Mieusset, R., & Bieth, E.
(2016). Truncating Mutations in the Adhesion G Protein-Coupled Receptor
G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas
Deferens. American Journal of Human Genetics , 99(2), 437–442.https://doi.org/10.1016/j.ajhg.2016.06.012
Skaletsky, H., Kuroda-Kawaguchi, T., Minx, P. J., Cordum, H. S.,
Hillier, L., Brown, L. G., Repping, S., Pyntikova, T., Ali, J., Bieri,
T., Chinwalla, A., Delehaunty, A., Delehaunty, K., Du, H., Fewell, G.,
Fulton, L., Fulton, R., Graves, T., Hou, S. F., Latrielle, P., …
Page, D. C. (2003). The male-specific region of the human Y chromosome
is a mosaic of discrete sequence classes. Nature , 423(6942),
825–837.https://doi.org/10.1038/nature01722
Tang, S., Wang, X., Li, W., Yang, X., Li, Z., Liu, W., Li, C., Zhu, Z.,
Wang, L., Wang, J., Zhang, L., Sun, X., Zhi, E., Wang, H., Li, H., Jin,
L., Luo, Y., Wang, J., Yang, S., & Zhang, F. (2017). Biallelic
Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple
Morphological Abnormalities of the Sperm Flagella. American
Journal of Human Genetics , 100(6), 854–864.https://doi.org/10.1016/j.ajhg.2017.04.012
Toure´, A., Martinez, G., Kherraf, Z.E., Cazin, C., Beurois, J.,
Arnoult, C., Ray, P.F., and Coutton, C. (2020). The genetic architecture
of morphological abnormalities of the sperm tail. Human Genetics ,
140(1), 21-42.https://doi.org/10.1007/s00439-00020-02113-x.
Wang, W., Tian, S., Nie, H., Tu, C., Liu, C., Li, Y., Li, D., Yang, X.,
Meng, L., Hu, T., Zhang, Q., Du, J., Fan, L., Lu, G., Lin, G., Zhang,
F., & Tan, Y. Q. (2021). CFAP65 is required in the acrosome biogenesis
and mitochondrial sheath assembly during spermiogenesis. Human
Molecular Genetics , 30(23), 2240–2254.