{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CFAP91, encoded by the MAATS1 gene, is a component of the calmodulin‐ and spoke‐associated complex (CSC) that plays a critical role in the proper assembly and function of the axoneme in motile cilia and flagella. In human sperm, CFAP91 is essential for the formation of the central pair complex and for the correct assembly of the radial spokes; loss‐of‐function variants lead to severe ultrastructural defects and compromised flagellar motility, which underlie multiple morphological abnormalities of the flagella (MMAF) and consequent male infertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Biochemical and functional studies further indicate that CFAP91 (also referred to as FAP91) interacts with other components of the CSC, such as WDR66, and with elements of the radial spoke machinery; through these interactions, it mediates regulatory signals between the radial spokes and dynein arms to modulate dynein‐driven microtubule sliding."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these results support a model in which CFAP91 is indispensable for establishing normal flagellar architecture and function by ensuring the structural integrity of the radial spokes and effective regulation of dynein motor activity.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Guillaume Martinez, Julie Beurois, Denis Dacheux, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biallelic variants in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MAATS1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2019-106775"}], "href": "https://doi.org/10.1136/jmedgenet-2019-106775"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32161152"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32161152"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Erin E Dymek, Elizabeth F Smith "}, {"type": "b", "children": [{"type": "t", "text": "A conserved CaM- and radial spoke associated complex mediates regulation of flagellar dynein activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200703107"}], "href": "https://doi.org/10.1083/jcb.200703107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17967944"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17967944"}]}]}]}