Aminokiselinska sekvenca
uredi
Dužina polipeptidnog lanca je 758 aminokiselina , a molekulska težina 87.374 Da .[ 6]
10 20 30 40 50 MRKQGVSSKR LQSSGRSQSK GRRGASLARE PEVEEEMEKS ALGGGKLPRG SWRSSPGRIQ SLKERKGLEL EVVAKTFLLG PFQFVRNSLA QLREKVQELQ ARRFSSRTTL GIAVFVAILH WLHLVTLFEN DRHFSHLSSL EREMTFRTEM GLYYSYFKTI IEAPSFLEGL WMIMNDRLTE YPLIINAIKR FHLYPEVIIA SWYCTFMGIM NLFGLETKTC WNVTRIEPLN EVQSCEGLGD PACFYVGVIF ILNGLMMGLF FMYGAYLSGT QLGGLITVLC FFFNHGEATR VMWTPPLRES FSYPFLVLQM CILTLILRTS SNDRRPFIAL CLSNVAFMLP WQFAQFILFT QIASLFPMYV VGYIEPSKFQ KIIYMNMISV TLSFILMFGN SMYLSSYYSS SLLMTWAIIL KRNEIQKLGV SKLNFWLIQG SAWWCGTIIL KFLTSKILGV SDHIRLSDLI AARILRYTDF DTLIYTCAPE FDFMEKATPL RYTKTLLLPV VMVITCFIFK KTVRDISYVL ATNIYLRKQL LEHSELAFHT LQLLVFTALA ILIMRLKMFL TPHMCVMASL ICSRQLFGWL FRRVRFEKVI FGILTVMSIQ GYANLRNQWS IIGEFNNLPQ EELLQWIKYS TTSDAVFAGA MPTMASIKLS TLHPIVNHPH YEDADLRART KIVYSTYSRK SAKEVRDKLL ELHVNYYVLE EAWCVVRTKP GCSMLEIWDV EDPSNAANPP LCSVLLEDAR PYFTTVFQNS VYRVLKVN
Simboli
Protein kodiran ovim genom pripada porodici dpy-19 (povezan sa razvojnom pluripotancijom). Vrlo je eksprimiran u sjemenicima , a potreban je za produženje glave spermatozoida i stvaranje akrosoma tokom spermatogeneze . Mutacije u ovom genu povezane su s poremećajem muške plodnosti (uzrokuju neplodnost ), spermatogenim zatajenjem tipa 9 (SPGF9).
Dopunska literatura
uredi
Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, Sèle B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF (mart 2011). "A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation" . American Journal of Human Genetics . 88 (3): 351–61. doi :10.1016/j.ajhg.2011.02.007 . PMC 3059422 PMID 21397064 . Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, Triki C, Escalier D, Hesters L, Mitchell V, Levy R, Sermondade N, Boitrelle F, Vialard F, Satre V, Hennebicq S, Jouk PS, Arnoult C, Lunardi J, Ray PF (august 2012). "MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia" . Human Reproduction . 27 (8): 2549–58. doi :10.1093/humrep/des160 PMID 22627659 . Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S (august 2012). "Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots" . Human Molecular Genetics . 21 (16): 3695–702. doi :10.1093/hmg/dds200 PMID 22653751 . Carson AR, Cheung J, Scherer SW (mart 2006). "Duplication and relocation of the functional DPY19L2 gene within low copy repeats" . BMC Genomics . 7 : 45. doi :10.1186/1471-2164-7-45 . PMC 1475853 PMID 16526957 . Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF (mart 2013). "Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population" . PLOS Genetics . 9 (3): e1003363. doi :10.1371/journal.pgen.1003363 . PMC 3605140 PMID 23555282 . 
