LOCUS       NM_002440               3270 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens mutS homolog 4 (MSH4), mRNA.
ACCESSION   NM_002440
VERSION     NM_002440.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3270)
  AUTHORS   Hashemi Sheikhshabani,S., Ghafouri-Fard,S., Hosseini,E. and
            Omrani,M.D.
  TITLE     A novel homozygote nonsense variant of MSH4 leads to primary
            ovarian insufficiency and non-obstructive azoospermia
  JOURNAL   Mol Biol Rep 51 (1), 68 (2024)
   PUBMED   38175272
  REMARK    GeneRIF: A novel homozygote nonsense variant of MSH4 leads to
            primary ovarian insufficiency and non-obstructive azoospermia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3270)
  AUTHORS   Wan,Y., Hong,Z., Ma,B., He,X., Ma,L., Wang,M. and Zhang,Y.
  TITLE     Identification of compound heterozygous variants in MSH4 as a novel
            genetic cause of diminished ovarian reserve
  JOURNAL   Reprod Biol Endocrinol 21 (1), 76 (2023)
   PUBMED   37620942
  REMARK    GeneRIF: Identification of compound heterozygous variants in MSH4
            as a novel genetic cause of diminished ovarian reserve.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3270)
  AUTHORS   Li,P., Ji,Z., Zhi,E., Zhang,Y., Han,S., Zhao,L., Tian,R., Chen,H.,
            Huang,Y., Zhang,J., Chen,H., Zhao,F., Zhou,Z., Li,Z. and Yao,C.
  TITLE     Novel bi-allelic MSH4 variants causes meiotic arrest and
            non-obstructive azoospermia
  JOURNAL   Reprod Biol Endocrinol 20 (1), 21 (2022)
   PUBMED   35090489
  REMARK    GeneRIF: Novel bi-allelic MSH4 variants causes meiotic arrest and
            non-obstructive azoospermia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3270)
  AUTHORS   Wyrwoll,M.J., van Walree,E.S., Hamer,G., Rotte,N., Motazacker,M.M.,
            Meijers-Heijboer,H., Alders,M., Meissner,A., Kaminsky,E., Woste,M.,
            Krallmann,C., Kliesch,S., Hunt,T.J., Clark,A.T., Silber,S.,
            Stallmeyer,B., Friedrich,C., van Pelt,A.M.M., Mathijssen,I.B. and
            Tuttelmann,F.
  TITLE     Bi-allelic variants in DNA mismatch repair proteins MutS Homolog
            MSH4 and MSH5 cause infertility in both sexes
  JOURNAL   Hum Reprod 37 (1), 178-189 (2021)
   PUBMED   34755185
  REMARK    GeneRIF: Bi-allelic variants in DNA mismatch repair proteins MutS
            Homolog MSH4 and MSH5 cause infertility in both sexes.
REFERENCE   5  (bases 1 to 3270)
  AUTHORS   Akbari,A., Padidar,K., Salehi,N., Mashayekhi,M., Almadani,N.,
            Sadighi Gilani,M.A., Bashambou,A., McElreavey,K. and Totonchi,M.
  TITLE     Rare missense variant in MSH4 associated with primary gonadal
            failure in both 46, XX and 46, XY individuals
  JOURNAL   Hum Reprod 36 (4), 1134-1145 (2021)
   PUBMED   33448284
  REMARK    GeneRIF: Rare missense variant in MSH4 associated with primary
            gonadal failure in both 46, XX and 46, XY individuals.
REFERENCE   6  (bases 1 to 3270)
  AUTHORS   Santucci-Darmanin,S., Walpita,D., Lespinasse,F., Desnuelle,C.,
            Ashley,T. and Paquis-Flucklinger,V.
  TITLE     MSH4 acts in conjunction with MLH1 during mammalian meiosis
  JOURNAL   FASEB J 14 (11), 1539-1547 (2000)
   PUBMED   10928988
REFERENCE   7  (bases 1 to 3270)
  AUTHORS   Kneitz,B., Cohen,P.E., Avdievich,E., Zhu,L., Kane,M.F., Hou,H. Jr.,
            Kolodner,R.D., Kucherlapati,R., Pollard,J.W. and Edelmann,W.
  TITLE     MutS homolog 4 localization to meiotic chromosomes is required for
            chromosome pairing during meiosis in male and female mice
  JOURNAL   Genes Dev 14 (9), 1085-1097 (2000)
   PUBMED   10809667
REFERENCE   8  (bases 1 to 3270)
  AUTHORS   Bocker,T., Barusevicius,A., Snowden,T., Rasio,D., Guerrette,S.,
            Robbins,D., Schmidt,C., Burczak,J., Croce,C.M., Copeland,T.,
            Kovatich,A.J. and Fishel,R.
  TITLE     hMSH5: a human MutS homologue that forms a novel heterodimer with
            hMSH4 and is expressed during spermatogenesis
  JOURNAL   Cancer Res 59 (4), 816-822 (1999)
   PUBMED   10029069
REFERENCE   9  (bases 1 to 3270)
  AUTHORS   Winand,N.J., Panzer,J.A. and Kolodner,R.D.
  TITLE     Cloning and characterization of the human and Caenorhabditis
            elegans homologs of the Saccharomyces cerevisiae MSH5 gene
  JOURNAL   Genomics 53 (1), 69-80 (1998)
   PUBMED   9787078
REFERENCE   10 (bases 1 to 3270)
  AUTHORS   Paquis-Flucklinger,V., Santucci-Darmanin,S., Paul,R., Saunieres,A.,
            Turc-Carel,C. and Desnuelle,C.
  TITLE     Cloning and expression analysis of a meiosis-specific MutS homolog:
            the human MSH4 gene
  JOURNAL   Genomics 44 (2), 188-194 (1997)
   PUBMED   9299235
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB077677.1, AF104243.1,
            BC033030.1 and AL445464.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002440.3.
            
            Summary: This gene encodes a member of the DNA mismatch repair mutS
            family. This member is a meiosis-specific protein that is not
            involved in DNA mismatch correction, but is required for reciprocal
            recombination and proper segregation of homologous chromosomes at
            meiosis I. This protein and MSH5 form a heterodimer which binds
            uniquely to a Holliday Junction and its developmental progenitor,
            thus provoking ADP-ATP exchange, and stabilizing the interaction
            between parental chromosomes during meiosis double-stranded break
            repair. [provided by RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033030.1, U89293.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263187.4/ ENSP00000263187.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                DB077677.1         12-104
            94-3006             AF104243.1         1-2913
            3007-3266           BC033030.1         3008-3267
            3267-3270           AL445464.9         90757-90760
FEATURES             Location/Qualifiers
     source          1..3270
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..3270
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /note="mutS homolog 4"
                     /db_xref="GeneID:4438"
                     /db_xref="HGNC:HGNC:7327"
                     /db_xref="MIM:602105"
     exon            1..348
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            349..531
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            532..692
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            693..803
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            804..919
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1093
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1266
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1334
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..1409
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1474
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1475..1644
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1645..1781
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1782..1885
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1886..2010
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2011..2211
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2212..2330
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2331..2459
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2460..2634
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2635..2723
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2724..3270
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3241..3246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /note="hexamer: AATAAA"
     polyA_site      3270
                     /gene="MSH4"
                     /gene_synonym="ASG; POF20; SPGF2"
                     /note="major polyA site"
ORIGIN      
        1 gcgcagttct cccgcccgtt tcagcggcgc agcttctgta gttgggctac tggaggggtc
       61 gctcagaaac ctcatacttc tcgggtcagg gaaggtttgg gaggatgctg aggcctgaga
      121 tctcatcaac ctcgccttct gccccggcgg tttccccgtc gtcgggagaa acccgctcac
      181 ctcagggtcc ccgctacaat ttcggactcc aggagactcc acagagccgc ccttcggtcc
      241 aggtggtctc tgcatccacc tgtcctggca cgtcaggagc tgcgggcgac cggagcagca
      301 gcagcagcag ccttccctgc cccgcgccaa actcccggcc agctcaaggt tcatactttg
      361 gaaacaaaag agcttatgca gaaaacacag ttgcatcaaa ttttactttt ggtgcaagct
      421 catcttctgc acgagatact aattatcctc aaacacttaa aactccattg tctactggaa
      481 atcctcagag atcaggttat aagagctgga caccacaagt gggatattca gcttcatcct
      541 catctgcgat ttctgcacac tccccatcag ttattgtagc tgttgtagaa gggagaggac
      601 ttgccagagg tgaaatagga atggcaagta ttgatttaaa aaacccccaa attatactat
      661 cccagtttgc agacaacaca acatatgcaa aggtgatcac taaacttaaa attttatcac
      721 ctttggaaat aataatgtca aatactgctt gtgctgtggg gaattccacc aagttgttca
      781 ctctgatcac agaaaatttc aagaatgtta atttcactac tatccaaagg aaatacttca
      841 atgaaacaaa aggattagag tacattgaac agttatgcat agcagaattc agcactgtcc
      901 taatggaggt tcagtccaag tattactgcc ttgcagctgt tgcagctttg ttaaaatatg
      961 ttgaatttat tcaaaattca gtttatgcac caaaatcact gaagatttgt ttccagggta
     1021 gtgaacagac agccatgata gattcatcat cagcccaaaa ccttgaattg ttaattaata
     1081 atcaagacta taggaataat cacactctct ttggtgttct aaattatact aagactcctg
     1141 gagggagtag acgacttcgt tctaatatat tagagcctct agttgatatt gaaaccatta
     1201 acatgagatt agattgtgtt caagaactac ttcaagatga ggaactattt tttggacttc
     1261 aatcagttat atcaagattt cttgatacag agcagcttct ttctgtttta gtccaaattc
     1321 caaagcaaga cacggtcaat gctgctgaat caaagataac aaatttaata tacttaaaac
     1381 ataccttgga acttgtggat cctttaaaga ttgctatgaa gaactgtaac acacctttat
     1441 taagagctta ctatggttcc ttggaagaca agaggtttgg aatcatactt gaaaagatta
     1501 aaacagtaat taatgatgat gcaagataca tgaaaggatg cctaaacatg aggactcaga
     1561 agtgctatgc agtgaggtct aacataaatg aatttcttga catagcaaga agaacataca
     1621 cagagattgt agatgacata gcaggaatga tatcacaact tggagaaaaa tatagtctac
     1681 ctttaaggac aagttttagc tctgctcgag gatttttcat ccagatgact acagattgta
     1741 tagccctacc tagtgatcaa cttccttcag aatttattaa gatttctaaa gtgaaaaatt
     1801 cttacagctt tacatcagca gatttaatta aaatgaatga aagatgccaa gaatctttga
     1861 gagaaatcta tcacatgact tatatgatag tgtgcaaact gcttagtgag atttatgaac
     1921 atattcattg cttatataaa ctatctgaca ctgtgtcaat gctggatatg ctactgtcat
     1981 ttgctcatgc ctgcactctt tctgactatg ttcgaccaga atttactgat actttagcaa
     2041 tcaaacaggg atggcatcct attcttgaaa aaatatctgc ggaaaaacct attgccaaca
     2101 atacctatgt tacagaaggg agtaattttt tgatcataac tggaccaaac atgagtggaa
     2161 aatccacata tttaaaacag attgctcttt gtcagattat ggcccagatt ggatcatatg
     2221 ttccagcaga atattcttcc tttagaattg ctaaacagat ttttacaaga attagtactg
     2281 atgatgatat cgaaacaaat tcatcaacat ttatgaaaga aatgaaagag atagcatata
     2341 ttctacataa tgctaatgac aaatcgctca tattaattga tgaacttggc agaggtacta
     2401 atacggaaga aggtattggc atttgttatg ctgtttgtga atatctactg agcttaaagg
     2461 catttacact gtttgctaca catttcctgg aactatgcca tattgatgcc ctgtatccta
     2521 atgtagaaaa catgcatttt gaagttcaac atgtaaagaa tacctcaaga aataaagaag
     2581 caattttgta tacctacaaa ctttctaagg gactcacaga agagaaaaat tatggattaa
     2641 aagctgcaga ggtgtcatca cttccaccat caattgtctt ggatgccaag gaaatcacaa
     2701 ctcaaattac gagacaaatt ttgcaaaacc aaaggagtac ccctgagatg gaaagacaga
     2761 gagctgtgta ccatctagcc actaggcttg ttcaaactgc tcgaaactct caattggatc
     2821 cagacagttt acgaatatat ttaagtaacc tcaagaagaa gtacaaagaa gattttccca
     2881 ggactgaaca agttccagaa aagactgaag aataatcaca attctaatgt aataatatat
     2941 cttaattcaa ggaacctaga atttattttt ctccttagag ataaggaaaa taacatttgc
     3001 caaatttcat attttaattg aaaattacat tatattaaca tcacaattgt catctatata
     3061 ttctatatga aaaatattta ttataactta acaaatgaga actacttaaa ggaatggttt
     3121 ttatgttagg agaaaataca atacaccact tttttctcac aaaaattcac attattaaga
     3181 cctaagttca tttatactta caagttatag tttaaaatat tattgtaaat accctagttt
     3241 aataaacacc tttcttttta ggtctggaaa
//
