Gene: [13q142/RB1] protein pp110 (retinoblastoma-associated); retinoblastoma 1; osteosarcoma (MIM:259500); [OSRC PP110 ]

HIS

MIM:259500 describes marker OSRC (osteosarcoma), which is considered in pathogenetic connection with retinoblastoma (because retinoblastoma survivers have a significantly increased risk of osteosarcoma). OSRC has been excluded from GDB. Involvement of the RB1 locus in CLL could be excluded, see GEM:13q14/DBM."

GEN

The gene length is 100 kb (200 kb, according to McGee-1989). Exons: 27; introns: 26. The mature transcript length is 4.6 kb."

LIN

See GEM:13q1411/ESD.

PRO

Probe Probe Vector Cloning Insert Reference number name name site(s) size(kb)
[1] p68RS2.0 bluescribe EcoRI-SacI 2.0
[2] p88R0.6 bluescribe PstI-EcoRI 0.6
[3] p35R0.6 bluescribe EcoRI 0.6
[4] p95HS0.5 bluescribe HindIII/SalI 0.5
[5] p2P0.3 bluescribe ? 0.3
[6] p6NR0.5 pGEM1 EcoRI 0.5
[7] p123M1.8 Bluescript BamHI 1.8
[8] E1SD/I1SD ? ? ?"

POL

 Enzyme Alleles in kb/(Popul Freq) Probe number)
[1] RsaI A1= 2.0/(0.13); A2= 1.95/(0.02); A3= 1.9/(0.07); Probe 1 A4= 1.85/(0.07); A5= 1.8/(0.35); A6= 1.75/(0.20); A7= 1.65/(0.09); A8= 1.50/(0.09) VNTR with eight alleles from 1.5-2.0 kb; also detected with MboI, HaeIII, Sau961, BstNI, ScrFI, AluI, DdeI, DraI, BanII, HincII, StuI
[2] XbaI B1= 7.0/(0.55); B2= 5.5/(0.45) Probe 2
[3] Tth111I C1= 4.95/(0.20); C2= 4.35/(0.80) Probe 3
[4] KpnI E1= 12.0/(0.95); E2= 8.0/(0.05) Probe 4
[5] MboII F1= 1.0/(>0.90); F2= 0.8/(<0.05); f="6]" ="/TD" pcramp="13]" revealed="11]" bamhi="8]">

REL

GEM:00.0/RBBP1.

REF

CAG,CYG,PAT "Benedict WF &: Science, 219, (25 Feb), 973-975, 1983
PRO,LIN,MAP "Blanquet &: Clin Genet, 37, N4, 291, 1990
PRO,POL "Bookstein R &: NAR, 18, 1666, 1990
PRO,GEN,POL,MUT "Bookstein R &: PNAS, 85, N7, 2210-2214, 1988
MUT,MOL,GEN,PAT "Canning S, Dryja TP: PNAS, 86, (Jul), 5044-5048, 1989
CAG,CYG,PAT "Chaum &: CCG, 38, N2, 82-91, 1984
CAG,CYG,PAT "Connolly &: Hum Genet, 65, N2, 122-124, 1983
LOC,MAP "Cowell &: Cancer Genet Cytogenet, 27, 27-31, 1987
MGC,CYG "Cowell &: Arch Dis Child, 62, 8-11, 1986a
MGC,CYG "Cowell &: Hum Genet, 72, 164-167, 1986b
MUT,PAT,FOG "Dryja TP &: Nature, 339, 556-558, 1989
COM "Dryja TP &: AJHG, 38, 59-66, 1986a
PRO,GEN,SEQ "Dryja TP &: PNAS, 83, N19, 7391-7394, 1986b
CAG,CYG,PAT "Dudin G &: CCG, 38, 235-237, 1984
LOC,MAP "Duncan AM &: CCG, 44, 153-157, 1987
PRO,LIN,MAP "Ford GM &: Genomics, 6, 284-292, 1990
PRO,GEN,SEQ "Friend SH &: PNAS, 84, N24, 9059-9063, 1987
PRO,GEN,SEQ "Friend SH &: Nature, 323, 643-646, 1986
MUT,GEN,PAT "Greger V &: Clin Genet, 37, N4, 313, 1990
MGC,MOL "Greger V &: J Med Genet, 25, 217-221, 1988
PRO,GEN,SEQ "Lee W-H &: Science, 235, (13 Mar), 1394-1399, 1987
POL "McGee TL &: NAR, 18, N1, 207, 1990
PRO,GEN,SEQ,POL "McGee TL &: Gene, 80, 119-128, 1989
LOC,MAP "Mitchell CD, Cowell: Hum Genet, 81, 57-60, 1988
CAG,CYG,PAT "Motegi T &: Hum Genet, 60, 193-195, 1982
POP,PAT,LIN "Olsen &: Hum Genet, 85, N3, 283-287, 1990
CAG,CYG,PAT "Phillips RA, Gallie BL: J Cell Physiol, 3, (Suppl.), 79-85, 1984
CAG,CYG,PAT "Rivera H &: Hum Genet, 59, 211-214, 1981
PRO,POL,GEN,MUT,PAT "Sakai &: AJHG, 48, N5, 880-888, 1991
CAG,CYG,PAT "Sakai &: Cancer Genet Cytogenet, 17, 95-112, 1985
LOC,MAP "Sparkes RS &: Hum Genet, 68, N3, 258-259, 1984a
REV,CAG,PAT "Sparkes RS: Cancer Surveys, 3, N3, 479-496, 1984b
LOC,MAP "Sparkes RS &: Science, 217, 971-973, 1983
LOC,MAP "Sparkes RS &: Science, 208, 1042-1044, 1980
REV,HIS,FOG "Vogel F: Hum Genet, 52, 1-54, 1979
LOC,MAP "Ward P &: J Med Genet, 21, N2, 92-95, 1984
REV,GEN,EXP,MEB,PAT "Weinberg RA: Trends Biochem Sci, 15, N5, 199-202, 1990
REV,EXP,MUT,PAT "Weinberg RA: Blood, 74, N2, 529-532, 1989
PRO,POL "Wiggs &: New Engl J Med, 318, 151-157, 1988
PRO,POL "Yandell &: CCG, 51, (HGM10), 1112, 1989
LOC,MAP "Yunis JJ, Ramsay: Am J Dis Child, 132, 161-163, 1978

SWI

 SWISSPROT: P06400

KEY

onc, eye, bone

CLA

coding, basic

LOC

13 q14.2

MIM

 MIM: 180200

SYN

OSRC PP110

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