Chinese Journal of Biochemistry and Molecular Biology. Structure and Function of BOULE Protein, a Ne w Member of the Human DAZ Family , DA ZL

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1 ISSN CN ΠQ Chinese Journal of Biochemistry and Molecular Biology 23 (10) : DAZ BOUL E 3 3,,,,, ( ) BOULE 2001 DAZ BOUL E BOULE BOULE DAZ DAZ RNA (RBM) DAZ DAZL DAZ 3 BOULE BOULE ;DAZ ; R69812 Structure and Function of BOULE Protein, a Ne w Member of the Human DAZ Family LI Qi2Fa 3, LI Yin2Xia, ZHANG Qing2Bo, LIU Zhen2Shan, QU Xu2Guang, XIE Zhuang 3 ( Laboratory of Animal Reproductive Genetics and Molecular Evolution, College of Animal Science and Technology, Nanjing Agricultural University, Nanjing , China) Abstract BOULE protein, a new member of DAZ family, is found in 2001, and is the key regulation factor in meiosis of human spermatogenesis The expression change of BOUL E gene or the absence of BOULE protein brings on meiosis arrest and spermatogenic failure, which can lead to azoospermia and male infertility Primary structure of BOULE protein owns the characterized domain of DAZ family, including DAZ repeat and RNA2 binding domain ( RBM), so BOULE protein is list the third member followed the DAZ and DAZL In this papper, we summarized the finding, structure and location and focused on introducing in detail its function and mechanism in germ cell meiosis in male and other species Key words BOULE protein ; DAZ family ; meiosis arrest ; male infertility A DAZ DA Z B [11 ], DA ZL [14 ] [15 ] [16 ] [17 ] 3, : ; : (No ) [1 3 ] DA Z ( Deleted in Azoospermia) ( DA Z [4 family) ] DA Z 3 1 Y DA Z [5 ] 2 DA ZL ( deleted in (No KJ05011) 3 :Tel : , azoospermia2like) [6 ] BOUL E [7 ] 3 RNA E2mail : edu cn ; E2mail : edu cn Received : June 4, 2007 ;Accepted :August 27,2007 Supported by National Natural Science Foundation of China (No ) and Youth Science and Technology Innovation Foundation of Nanjing Agriculture University (No KJ05011) 3 Corresponding author [8,9 ] [10 ] Li Qi2Fa Tel : (025) , E2mail : edu cn Xie Zhuang Tel : (025) , E2mail : edu cn [12 ] [13 ]

2 [7, BOUL E ] [18 ] [19 ] 325 bp 872 bp 1 DAZ,, 283 (Fig 1) DA ZL Boule DA Z BOULE 2001 DAZ DAZL,BOULE RNA [7 ] ( RNA 2 ) ( ribonucleoprotein, RNP ) RNP1, BOUL E RNP2 [5,6,24 ] DAZ RNA [4,25 BOULE ] ; (meiotic arrest,ma) DAZ [25 ] [20 ], BOULE [20,21 ] BOULE Fig 1 Sketch map of primary structure of BOULE protein 1 BOULE 1996, Eberhart [18 ] (transcript variants) B1 B2 B3,3 N DA Z 3 1 Boule DA Z, Boule (alternatively spliced exons 1) RNA, ; BOULE DAZ : (1) DAZ DAZL BOULE RNA ( RNA2binding domain,rbm) RNA RNA [7 ] 2 BOULE BOUL E bp 849 bp 3113 kd [11 ] DAZ DAZ Kostova [21 ] 3 BOULE Boule,Boule 3 BOULE G 2 ΠM 311, 2001,Xu [7 ] BOUL E 2q33 [7 ] DA Z DAZΠDAZL Yq11123 [5 ],DAZL, DAZΠDAZL 3p24 [6 ], DA Z 1 DAZ DAZL Boule 2, Boule 312 (42 %) DAZ Northern, BOUL E DAZL Boule BOULE Western BOUL E 32 kd BOULE BOUL E [26 ] [6 ] [7 ] DA Z DA Z [5 ] DA ZL [6 ] [22 DAZ ] ; (2) DAZ DAZL BOULE ( ) DAZ (DAZ repeat) [23,DAZL ] ; (3) DAZ DAZL BOULE, boule [4 ] BOULE DAZ DAZ 3, BOULE ( ) (leptotene spermatocytes) (zygotene spermatocytes)

3 10 :DAZ BOULE 825 (pachytene spermatocytes) (diplotene) ; ( round spermatids ) ( elongating, 12 spermatids), BOUL E (primordial germ cells) Boule Boule [4,27 ] ( spermatogonial cells),, Boule BOULE Boule, [24,25 ] BOULE BOUL E [25 ] [28 ] Boule, [7 ] Boule DAZ DAZL BOUL E Boule Boule [29,30 ] BOUL E BOULE 4 BOULE (metazoans) BOULE 412 BOUL E BOULE, BOUL E ( ) RNA Xu [11 ] 164 BOUL E,BOULE 3, 3 (germ cell maturation) ( 3 2untranslated region, 3 2UTR ) [24 ], BOUL E Luetjens [25 ] 18 BOUL E, 2 11 [31 ] (MA) ( Westerveld [32 ] Lepretre [33 ] 2 ) BOUL E BOUL E 2 1 GΠC Q2E (mixed atrophy) BOUL E [32,33 BOUL E ] BOUL E Boule 1 BOULE twine ( Cdc25 [25 ], BOUL E ), Cdc2Π (testicular failure), B M (M phase2promoting BOUL E, factor,mpf) Cdc2Π B G 2 2 (sperm retrieval) BOUL E [20 ], BOUL E boule twine [34,35 ] Cdc25 2,BOULE Cdc25A Cdc25C, MPF [7,9,21 ] [36 G 2 2M ] Xu [11 ], BOULE BOUL E boule Xu [11 ] BOUL E Boule M 1 BOULE Boule ( ) BOULE Boule? Boule BOUL E M

4 M MPF MPF, CDC25A B CDC2 (cell division cycle 2) MPF MPF,,BOULE,Wee1 Myt1 CDC25A CDC25 G 2 ΠM,BOULE CDC25A mrna [37 39 ] [25 3 CDC25, ] Xu [11 ] CDC25A, BOUL E boule [40,41 ] Boule RNA twine BOULE BOULE (Cdc25 ) Boule,CDC25A mrna, twine [ 11, 25] Fig 2 Pattern map of BOULE protein interaction mechanism in human The vertical arrows show positive regulation, P is the PO 2-3, mrna, BOULE ( Fig 2), Cheng [38 ], CDC25A :BOULE CDC25A mrna,cdc25a BOULE MPF CDC2 MPF RNAi ; MPF G 2 ΠM DAZΠDAZL PUMILIO2 DAZΠDAZL 5 BOULE,BOULE ( References) BOULE BOULE : BOUL E BOUL E [32,33 ], BOUL E? Luetjens [25 ],BOULE CDC25A 2 DAZAP1 DAZAP2 DZIP1 DZIP2 DZIP3 hqk3 [9 ], [ 1 ] Crackower M A, Kolas N K, Noguchi J, et al Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis [J ] Science, 2003, 300 (5623) : [ 2 ] Miyamoto T, Hasuike S, Yogev L, et al Azoospermia in patients heterozygous for a mutation in SCP3 [J ] Lancet, 2003, 362 : [ 3 ] Zhang W, Zhang S, Xiao C, et al Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in

5 10 :DAZ BOULE 827 idiopathic infertile men [J ] Reproduction, 2007, 133 (2) : [ 4 ] Reynolds N, Cooke H J Role of the DAZ genes in male fertility [J ] Reprod Biomed Online, 2005, 10(1) :72280 [ 5 ] Reijo R, Lee T Y, Salo P, et al Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA2 binding protein gene [J ] Nat Genet, 1995, 10 (4) : [ 6 ] Yen P H, Chai N N, Salido E C The human autosomal gene DAZLA : testis specificity and a candidate for male infertility [ J ] Genet, 1996, 5 (12) : Hum Mol [ 7 ] Xu E Y, Moore F L, Reijo R A A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans [J ] Proc Natl Acad Sci USA, 2001, 98( 13) : [ 8 ] Houston D W, King M L A critical role for Xdazl a germ plasm2 localized RNA, in the differentiation of primordial germ cells in Xenopus [J ] Development, 2000, 127 (3) : [ 9 ] Yen P H Putative biological functions of the DAZ family [J ] Int J Androl, 2004, 27 (3) : [10 ] Tschanter P, Kostova E, Luetjens C M, et al No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population [ J ] Hum Reprod, 2004, 19 (12) : [11 ] Xu E Y, Lee D F, Klebes A, et al Human BOULE gene rescues meiotic defects in infertile flies[j ] Hum Mol Genet, 2003, 12 (2) : [12 ] Reynolds N, Collier B, Maratou K, et al Dazl binds in vivo to specific transcripts and can regulate the pre2meiotic translation of Mvh in germ cells [J ] Hum Mol Genet, 2005, 14(24) : [13 ] Cooke H J, Lee M, Kerr S, et al A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads [J ] Hum Mol Genet, 1996, 5 (4) : [14 ] Houston D W, Zhang J, Maines J Z, et al A Xenopus DAZ2like gene encodes an RNA component of germ plasm and is a functional homologue of Drosophila boule [J ] Development, 1998, 125 ( 2) : [15 ] Tamori Y, Iwai T, Mita K, et al Spatio2temporal expression of a DAZ2like gene in the Japanese newt Cynops pyrrhogaster that has no germ plasm [J ] Dev Genes Evol, 2004, 214 (12) : [16 ] Maegawa S, Yasuda K, Inoue K Maternal mrna localization of zebrafish DAZ2like gene[j ] Mech Dev, 1999, 81(122) : [17 ] Xu H, Li M, Gui J, et al Cloning and expression of medaka dazl during embryogenesis and gametogenesis [ J ] Gene Expr Patterns, 2007, 7 (3) : [18 ] Eberhart C G, Maines J Z, Wasserman S A Meiotic cell cycle requirement for a fly homologue of human deleted in Azoospermia [J ] Nature, 1996, 381 (6585) : [19 ] Karashima T, Sugimoto A, Yamamoto M Caenorhabditis elegans homologue of the human azoospermia factor DAZ is required for oogenesis but not for spermatogenesis [J ] Development, 2000, 127 (5) : [20 ] Lin YM, Kuo P L, Lin Y H, et al Messenger RNA transcripts of the meiotic regulator BOULE in the testis of azoospermic men and their application in predicting the success of sperm retrieval [ J ] Reprod, 2005, 20(3) : Hum [21 ] Kostova E, Yeung C H, Luetjens C M, et al Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men [J ] Mol Hum Reprod, 2007, 13(2) :85293 [22 ] Burd C G, Dreyfuss G Conserved structures and diversity of functions of RNA2binding proteins[j ] Science, 1994, 265(5172) : [23 ] Tsui S, Dai T, Roettger S, et al Identification of two novel proteins that interact with germ2cell2specific RNA2binding proteins DAZ and DAZL1[J ] Genomics, 2000, 65(3) : [24 ] Haag E S Rolling back to BOULE [J ] Proc Natl Acad Sci USA, 2001, 98 (13) : [25 ] Luetjens C M, Xu E Y, Rejo R A, et al Association of meiotic arrest with lack of BOULE protein expression in infertile men [J ] J Clin Endocrinol Metab, 2004, 89 (4) : [26 ] Kuo P L, Wang S T, Lin Y M, et al Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure [J ] Fertil Steril, 2004, 81(4) : [27 ] Tung J Y, Luetjens C M, Wistuba J, et al Evolutionary comparison of the reproductive genes, DAZL and BOULE, in primates with and without DAZ [J ] Dev Genes Evol, 2006, 216(3) : [28 ] Cheng M H, Maines J Z, Wasserman S A Biphasic subcellular localization of the DAZL2related protein boule in Drosophila spermatogenesis [J ] Dev Biol, 1998, 204(2) : [29 ] Reijo R A, Dorfman D M, Slee R, et al DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice [J ] Biol Reprod, 2000, 63 (5) : [30 ] Moore F L, Jaruzelska J, Dorfman D M, et al Identification of a novel gene, DZIP ( DAZ2interacting protein), that encodes a protein that interacts with DAZ ( deleted in azoospermia ) and is expressed in embryonic stem cells and germ cells [J ] Genomics, 2004, 83 (5) : [31 ] Truong B N, Moses E K, Armes J E, et al Searching for candidate genes for male infertility [J ] Asian J Androl, 2003, 5 (2) : [32 ] Westerveld G H, Repping S, Leschot N J, et al Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis [J ] Fertil Steril, 2005, 83 (2) : [33 ] Lepretre A C, Patrat C, Jouannet P, et al Mutation analysis of the BOULE gene in men with non2obstructive azoospermia : identification of a novel polymorphic variant in the black population[j ] Int J Androl, 2004, 27 (5) : [34 ] Joiner M L, Wu C F Nervous system function for the testis RNA2 binding protein boule in Drosophila [J ] J Neurogenet, 2004, 18(1) : [35 ] Maines J Z, Wasserman S A Post2transcriptional regulation of the meiotic Cdc25 protein twine by the Dazl orthologue Boule[J ] Nat Cell Biol, 1999, 1 (3) : [36 ] Liu D, Liao C, Wolgemuth D J A role for cyclin A1 in the activation of MPF and G22M transition during meiosis of male germ cells in mice [J ] Devl Biol, 2000, 224 (2) : [37 ] Wohlgemuth D J, Laurion E, Lele KM Regulation of the mitotic and

6 meiotic cell cycles in the male germ line [J ] Recent Prog Horm Res, 2002, 57 (1) : [38 ] Cheng Y S, Kuo P L, Teng Y N, et al Association of spermatogenic failure with decreased CDC25A expression in infertile men [J ] Hum Reprod, 2006, 21(9) : [39 ] Lin Y M, Teng Y N, Chung C L, et al Decreased mrna transcripts of M2phase promoting factor and its regulators in the testes of infertile men [J ] Hum Reprod, 2006, 21(1) : [40 ] Chen M S, Hurov J, White L S, et al Absence of apparent phenotype in mice lacking Cdc25C protein phosphatase [ J ] Mol Cell Biol, 2001, 21 (12) : [41 ] Wickramasinghe D, Becker S, Ernst M K, et al Two CDC25 homologues are differentially expressed during mouse development [J ] Development, 1995, 121(7) : ( ) (19 ),, ; ; ; ; ; : : : ( ) ( ) (40 ) ; (20 ) ; (5 ) (A4 2,Word ) ,E2mail edu cn : :1 000 ; :1 100 ; :600 ; :

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